ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3331A>T (p.Ser1111Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002326497 SCV002606087 uncertain significance Cardiovascular phenotype 2024-10-17 criteria provided, single submitter clinical testing The p.S1111C variant (also known as c.3331A>T), located in coding exon 15 of the DSG2 gene, results from an A to T substitution at nucleotide position 3331. The serine at codon 1111 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099404 SCV003256381 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-06-27 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1111 of the DSG2 protein (p.Ser1111Cys).
All of Us Research Program, National Institutes of Health RCV004808259 SCV005428765 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2024-07-10 criteria provided, single submitter clinical testing This missense variant replaces serine with cysteine at codon 1111 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 DSG2-related 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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