ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.402C>T (p.Thr134=)

gnomAD frequency: 0.00004  dbSNP: rs370422391
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220546 SCV000270923 likely benign not specified 2017-03-09 criteria provided, single submitter clinical testing p.Thr134Thr in Exon 5 of TMEM43: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 8/16512 South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs370422391).
Invitae RCV000531859 SCV000642098 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-12-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777831 SCV000913830 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000220546 SCV001363394 benign not specified 2019-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372221 SCV002625614 likely benign Cardiovascular phenotype 2022-04-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV002500701 SCV002803725 likely benign Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 2021-08-12 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000220546 SCV001979229 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729462 SCV001979616 likely benign not provided no assertion criteria provided clinical testing

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