ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)

gnomAD frequency: 0.00002  dbSNP: rs373527654
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000724394 SCV007135341 uncertain significance not provided 2025-09-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005394232 SCV006057595 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2023-10-19 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486596 SCV004240107 likely benign Cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724394 SCV003818515 uncertain significance not provided 2024-07-05 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293173 SCV001434170 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852812 SCV000995541 likely benign Ventricular tachycardia 2019-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621675 SCV000735262 likely benign Cardiovascular phenotype 2020-03-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000534367 SCV000643652 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000724394 SCV000237534 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Eurofins Ntd Llc (ga) RCV000724394 SCV000228537 uncertain significance not provided 2014-11-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040598 SCV000064289 uncertain significance not specified 2012-04-11 criteria provided, single submitter clinical testing The Asn22275Asp variant (TTN) has not been previously reported nor previously id entified by our laboratory. Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, and SIFT) do not provide strong support for or a gainst an impact to the protein. Additional information is needed to assess the clinical significance of this variant.
Clinical Genetics, Academic Medical Center RCV000724394 SCV001919772 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000724394 SCV001809175 uncertain significance not provided no assertion criteria provided clinical testing

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