ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2208C>T (p.Asn736=)

gnomAD frequency: 0.00004  dbSNP: rs727504534
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Total submissions: 4
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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 RCV000155685 SCV000205395 likely benign not specified 2013-04-26 criteria provided, single submitter clinical testing Asn736Asn in exon 14 of DSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Asn736Asn in exon 14 of DSC2 (allele frequenc y = n/a)
GeneDx RCV000155685 SCV000512862 benign not specified 2017-01-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001490871 SCV001695444 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426751 SCV002728228 benign Cardiovascular phenotype 2021-07-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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