ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.852G>A (p.Leu284=)

gnomAD frequency: 0.00001  dbSNP: rs139211731
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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 RCV001430196 SCV001632927 likely benign Arrhythmogenic right ventricular dysplasia 5 2019-04-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001430196 SCV004824668 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995802 SCV005524847 likely benign Cardiovascular phenotype 2024-11-10 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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