ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter)

dbSNP: rs1986951516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783146 SCV002021769 pathogenic Arrhythmogenic right ventricular dysplasia 11 2019-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414342 SCV002721876 pathogenic Cardiovascular phenotype 2019-04-02 criteria provided, single submitter clinical testing The p.Q620* pathogenic mutation (also known as c.1858C>T), located in coding exon 12 of the DSC2 gene, results from a C to T substitution at nucleotide position 1858. This changes the amino acid from a glutamine to a stop codon within coding exon 12. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001783146 SCV003330469 pathogenic Arrhythmogenic right ventricular dysplasia 11 2022-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1322771). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln620*) in the DSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551).

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