ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1307G>T (p.Gly436Val)

dbSNP: rs763981974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057379 SCV001221867 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 436 of the DSC2 protein (p.Gly436Val). This variant is present in population databases (rs763981974, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 265802). 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 DSC2 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.
Ambry Genetics RCV002379097 SCV002693773 uncertain significance Cardiovascular phenotype 2018-11-30 criteria provided, single submitter clinical testing The p.G436V variant (also known as c.1307G>T), located in coding exon 10 of the DSC2 gene, results from a G to T substitution at nucleotide position 1307. The glycine at codon 436 is replaced by valine, an amino acid with dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV001057379 SCV002777592 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2021-09-20 criteria provided, single submitter clinical testing
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen RCV000491345 SCV000298105 likely benign Dilated cardiomyopathy 1S 2016-05-01 no assertion criteria provided clinical testing

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