ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.495dup (p.Gly166fs)

dbSNP: rs781532110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000290082 SCV000330130 pathogenic not provided 2024-05-10 criteria provided, single submitter clinical testing Observed in patients with ARVC referred for genetic testing at GeneDx and in the published literature (PMID: 27532257); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31447099, 31402444, 33087929, 27532257)
Labcorp Genetics (formerly Invitae), Labcorp RCV000813935 SCV000954319 pathogenic Arrhythmogenic right ventricular dysplasia 10 2022-10-17 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: 280230). This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 27532257). This variant is present in population databases (rs781532110, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Gly166Trpfs*4) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562).
Fulgent Genetics, Fulgent Genetics RCV002503975 SCV002813246 pathogenic Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-11-08 criteria provided, single submitter clinical testing

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