ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.512+8C>A

gnomAD frequency: 0.00001  dbSNP: rs757632483
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914587 SCV001059769 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-08-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702519 SCV005202687 uncertain significance not specified 2024-07-10 criteria provided, single submitter clinical testing Variant summary: TMEM43 c.512+8C>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 251414 control chromosomes, predominantly at a frequency of 8.8e-06 within the Non-Finnish European subpopulation in the gnomAD database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.512+8C>A in individuals affected with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 738676). Based on the evidence outlined above, the variant was classified as uncertain significance.

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