ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro)

gnomAD frequency: 0.00001  dbSNP: rs1384172051
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064170 SCV001229052 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 807 of the DSG2 protein (p.Leu807Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Fulgent Genetics, Fulgent Genetics RCV002482079 SCV002775854 uncertain significance Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372973 SCV004096438 uncertain significance Cardiovascular phenotype 2023-08-30 criteria provided, single submitter clinical testing The p.L807P variant (also known as c.2420T>C), located in coding exon 15 of the DSG2 gene, results from a T to C substitution at nucleotide position 2420. The leucine at codon 807 is replaced by proline, an amino acid with similar properties. This amino acid position is not 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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