ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.551C>T (p.Thr184Ile)

dbSNP: rs372605499
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219286 SCV001391218 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 184 of the DSG2 protein (p.Thr184Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs372605499, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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