ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys)

gnomAD frequency: 0.00001  dbSNP: rs397517596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040299 SCV000063990 uncertain significance not specified 2012-04-17 criteria provided, single submitter clinical testing The Ser13892Cys variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stron g support for or against an impact to the protein. Additional information is nee ded to fully assess the clinical significance of the Ser13892Cys variant.
Fulgent Genetics, Fulgent Genetics RCV002496644 SCV002812160 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 2021-07-22 criteria provided, single submitter clinical testing

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