ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.513-9C>G

dbSNP: rs369551282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479942 SCV000574000 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TMEM43 gene. The c.513-9 C>G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant may damage the canonical splice acceptor site in intron 6 and may lead to abnormal gene splicing. However, the nucleotide at this position is not conserved across species and guanine (G) is present as the wild type in multiple species.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063824 SCV002416507 likely benign Arrhythmogenic right ventricular dysplasia 5 2022-08-29 criteria provided, single submitter clinical testing

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