ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11502G>A (p.Gly3834=)

gnomAD frequency: 0.00001  dbSNP: rs777420658
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Total submissions: 4
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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 RCV000221945 SCV000271141 likely benign not specified 2015-02-16 criteria provided, single submitter clinical testing p.Gly3596Gly in exon 45B of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/16496 South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV001455144 SCV001658898 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020604 SCV005020364 likely benign Cardiovascular phenotype 2024-01-01 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.
PreventionGenetics, part of Exact Sciences RCV004541338 SCV004774839 likely benign TTN-related disorder 2019-11-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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