ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.824C>T (p.Thr275Met)

gnomAD frequency: 0.00002  dbSNP: rs397517404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208003 SCV000263845 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV001303072 SCV001492306 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-06-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects DSC2 function (PMID: 21062920). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 222557). This missense change has been observed in individual(s) with clinical features of DSC2-related conditions (PMID: 21062920, 31024045). This variant is present in population databases (rs397517404, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 275 of the DSC2 protein (p.Thr275Met).

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