ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys)

gnomAD frequency: 0.00004  dbSNP: rs397517778
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Total submissions: 5
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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 RCV000040881 SCV000064572 likely benign not specified 2015-01-19 criteria provided, single submitter clinical testing p.Trp30466Cys in exon 303 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (25/8738) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs397517778).
GeneDx RCV001703914 SCV000237866 likely benign not provided 2019-07-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV000643803 SCV000765490 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000040881 SCV000858115 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371850 SCV002672313 likely benign Cardiovascular phenotype 2019-07-27 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.

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