ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.516C>T (p.Ala172=)

gnomAD frequency: 0.00045  dbSNP: rs148432515
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427738 SCV000514905 benign not specified 2016-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000642428 SCV000764106 benign Arrhythmogenic right ventricular dysplasia 5 2024-01-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178363 SCV001342782 benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338994 SCV002643672 likely benign Cardiovascular phenotype 2019-03-20 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.
Breakthrough Genomics, Breakthrough Genomics RCV004708798 SCV005239422 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003942330 SCV004763868 likely benign TMEM43-related disorder 2023-07-13 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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