ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)

gnomAD frequency: 0.00019  dbSNP: rs199646089
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547535 SCV000643716 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594551 SCV000702066 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341356 SCV002644982 likely benign Cardiovascular phenotype 2019-08-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV002476171 SCV002776652 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 2021-12-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330778 SCV004038652 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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