ClinVar Miner

Submissions for variant NC_000018.9:g.(?_29099325)_(29099910_?)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 RCV002006876 SCV002293793 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2021-04-16 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with DSG2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the DSG2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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