ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala)

gnomAD frequency: 0.00004  dbSNP: rs878854290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229056 SCV000286490 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-02-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509201 SCV001715787 uncertain significance not provided 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408963 SCV002723897 likely benign Cardiovascular phenotype 2020-11-09 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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