ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)

gnomAD frequency: 0.00005  dbSNP: rs766439271
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725169 SCV000237893 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213403 SCV000272823 uncertain significance not specified 2016-01-11 criteria provided, single submitter clinical testing The p.Cys31268Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 11/16510 South Asian and 5/6672 4 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs766439271). Computational prediction tools and conserv ation analysis do not provide strong support for or against an impact to the pro tein. In summary, the clinical significance of the p.Cys31268Ser variant is unce rtain.
Eurofins Ntd Llc (ga) RCV000725169 SCV000334607 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535734 SCV000642509 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381618 SCV002671656 likely benign Cardiovascular phenotype 2019-10-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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