ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2960T>C (p.Val987Ala)

gnomAD frequency: 0.00003  dbSNP: rs727502991
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150547 SCV000197775 uncertain significance not specified 2018-09-05 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Color Diagnostics, LLC DBA Color Health RCV001188345 SCV001355382 uncertain significance Cardiomyopathy 2023-09-13 criteria provided, single submitter clinical testing This missense variant replaces valine with alanine at codon 987 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 been identified in 2/279952 chromosomes 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.
Invitae RCV001850044 SCV002113890 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-01-07 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 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"). This variant has not been reported in the literature in individuals with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 163223). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 987 of the DSG2 protein (p.Val987Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.
Fulgent Genetics, Fulgent Genetics RCV002483304 SCV002785572 uncertain significance Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-07-05 criteria provided, single submitter clinical testing

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