ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3091C>T (p.Pro1031Ser)

dbSNP: rs2144361340
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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 RCV001970966 SCV002258435 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-09-09 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 1031 of the DSG2 protein (p.Pro1031Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.

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