ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2014T>C (p.Phe672Leu)

dbSNP: rs2144352923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886785 SCV002152732 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 672 of the DSG2 protein (p.Phe672Leu). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1388667).
Color Diagnostics, LLC DBA Color Health RCV003533044 SCV004363212 uncertain significance Cardiomyopathy 2022-01-21 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with leucine at codon 672 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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