ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)

gnomAD frequency: 0.00003  dbSNP: rs557125278
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Total submissions: 3
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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 RCV000156249 SCV000205965 uncertain significance not specified 2013-12-26 criteria provided, single submitter clinical testing The Cys11812Arg variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (amino acid bioch emical properties, conservation, SIFT, PolyPhen-2, AlignGVGD) suggest this varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. Additional information is needed to fully assess the cli nical significance of this variant.
GeneDx RCV001697085 SCV000716595 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV000862712 SCV001003254 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-10-14 criteria provided, single submitter clinical testing

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