ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1109C>G (p.Pro370Arg)

gnomAD frequency: 0.00001  dbSNP: rs1555627121
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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 RCV000549948 SCV000641959 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2017-04-14 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DSG2-related disease. This sequence change replaces proline with arginine at codon 370 of the DSG2 protein (p.Pro370Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine.

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