ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys)

gnomAD frequency: 0.00001  dbSNP: rs746319976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV005632340 SCV006320833 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765566 SCV000896881 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 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000229588 SCV000286745 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541382 SCV004760508 uncertain significance TTN-related disorder 2024-02-15 no assertion criteria provided clinical testing The TTN c.58561G>A variant is predicted to result in the amino acid substitution p.Glu19521Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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