ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102182G>A (p.Arg34061His)

gnomAD frequency: 0.00001  dbSNP: rs774174825
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005027501 SCV005655671 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 2024-04-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480636 SCV004225774 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing PP3
Ambry Genetics RCV000619385 SCV000737098 uncertain significance Cardiovascular phenotype 2016-06-16 criteria provided, single submitter clinical testing The p.R24996H variant (also known as c.74987G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 74987. This alteration is located in the M-band region of the N2-B isoform of the titin protein. The arginine at codon 24996 is replaced by histidine, an amino acid with highly similar properties. Based on data from ExAC, the A allele has an overall frequency of less than 0.01% (1/105531). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6062 samples (12124 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000472814 SCV000543117 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-16 criteria provided, single submitter clinical testing

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