ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)

gnomAD frequency: 0.00004  dbSNP: rs727503660
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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 RCV000152425 SCV000201472 likely benign not specified 2014-05-28 criteria provided, single submitter clinical testing Thr3732Thr in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Eurofins Ntd Llc (ga) RCV000727474 SCV000708857 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001397430 SCV001599177 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000727474 SCV001940437 benign not provided 2015-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426726 SCV002730413 likely benign Cardiovascular phenotype 2020-12-30 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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