ClinVar Miner

Submissions for variant NC_000018.10:g.(?_31519793)_(31519947_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001031064 SCV001194370 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2019-07-06 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 3 of the DSG2 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with DSG2-related conditions. This variant disrupts the p.Arg49 amino acid residue in DSG2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19151369, 28472724). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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