ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.1089C>T (p.Thr363=)

gnomAD frequency: 0.00008  dbSNP: rs145094507
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872678 SCV001014530 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-12-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001805919 SCV002053433 likely benign Cardiomyopathy 2021-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444942 SCV002733474 likely benign Cardiovascular phenotype 2022-05-20 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 RCV003975443 SCV004798688 likely benign TMEM43-related disorder 2021-10-29 criteria provided, single submitter 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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