ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.442+7G>A

gnomAD frequency: 0.00031  dbSNP: rs373590238
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Total submissions: 5
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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 RCV000154854 SCV000204536 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 442+7G>A in intron 5 of TMEM43: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.1% (5/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS). 442+7G>A in intron 5 of TMEM43 (allele frequency = 0.1%, 5/3738) **
Labcorp Genetics (formerly Invitae), Labcorp RCV000462135 SCV000557665 likely benign Arrhythmogenic right ventricular dysplasia 5 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001538387 SCV001756032 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154854 SCV002500520 benign not specified 2022-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748605 SCV005350129 likely benign TMEM43-related disorder 2024-06-06 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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