ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.96C>T (p.Thr32=)

gnomAD frequency: 0.00003  dbSNP: rs1021721320
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423460 SCV000536366 likely benign not specified 2017-01-16 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756787 SCV000884697 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing The p.Thr32Thr variant (rs1021721320) does not alter the amino acid sequence of the TMEM43 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) identified on a single chromosome of 246,160. Based on these observations, the p.Thr32Thr variant is likely to be benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001440020 SCV001642923 likely benign Arrhythmogenic right ventricular dysplasia 5 2024-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379397 SCV002695193 likely benign Cardiovascular phenotype 2022-05-02 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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