ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1000G>A (p.Val334Met)

gnomAD frequency: 0.00001  dbSNP: rs761360851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621994 SCV000735717 uncertain significance Cardiovascular phenotype 2017-01-05 criteria provided, single submitter clinical testing The p.V334M variant (also known as c.1000G>A), located in coding exon 8 of the DSG2 gene, results from a G to A substitution at nucleotide position 1000. The valine at codon 334 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and methionine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003517252 SCV004337423 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-06-17 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DSG2 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 518615). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs761360851, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 334 of the DSG2 protein (p.Val334Met).

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