ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2100C>T (p.Ser700=)

gnomAD frequency: 0.00002  dbSNP: rs397516704
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Total submissions: 3
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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 RCV000037279 SCV000060936 likely benign not specified 2012-09-28 criteria provided, single submitter clinical testing Ser700Ser in exon 14 of DSG2: 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. Ser700Ser in exon 14 of DSG2 (allele frequenc y = n/a)
Ambry Genetics RCV002415468 SCV002730376 likely benign Cardiovascular phenotype 2021-01-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV003631086 SCV004410375 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-14 criteria provided, single submitter clinical testing

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