ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1952T>G (p.Ile651Arg)

dbSNP: rs766353242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810471 SCV000950673 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2018-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with arginine at codon 651 of the DSG2 protein (p.Ile651Arg). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and arginine. This variant has not been reported in the literature in individuals with DSG2-related disease. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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