ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.949G>A (p.Asp317Asn)

gnomAD frequency: 0.00001  dbSNP: rs769219956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770541 SCV000901988 uncertain significance Cardiomyopathy 2015-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370031 SCV002686965 uncertain significance Cardiovascular phenotype 2023-01-23 criteria provided, single submitter clinical testing The p.D317N variant (also known as c.949G>A), located in coding exon 8 of the DSC2 gene, results from a G to A substitution at nucleotide position 949. The aspartic acid at codon 317 is replaced by asparagine, an amino acid with highly similar properties. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533966 SCV003302612 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 317 of the DSC2 protein (p.Asp317Asn). This variant is present in population databases (rs769219956, gnomAD 0.006%). 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: 626837). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
All of Us Research Program, National Institutes of Health RCV003999948 SCV004822555 uncertain significance Familial isolated arrhythmogenic right ventricular dysplasia 2023-12-01 criteria provided, single submitter clinical testing

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