ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1000G>A (p.Val334Met) (rs761360851)

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Total submissions: 1
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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.

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