ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.219A>G (p.Ile73Met) (rs748445394)

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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 RCV000619980 SCV000735759 uncertain significance Cardiovascular phenotype 2018-08-29 criteria provided, single submitter clinical testing The p.I73M variant (also known as c.219A>G), located in coding exon 4 of the DSG2 gene, results from an A to G substitution at nucleotide position 219. The isoleucine at codon 73 is replaced by methionine, an amino acid with highly similar properties. Another alteration affecting this amino acid, p.I73V (c.217A>G), was detected in an arrhythmogenic right ventricular cardiomyopathy (ARVC) cohort, but clinical details were not provided (Bhuiyan ZA. Circ Cardiovasc Genet. 2009;2(5):418-27). This amino acid position is well conserved in available 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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