ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.874C>T (p.Pro292Ser)

gnomAD frequency: 0.00002  dbSNP: rs767340313
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824184 SCV000965070 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-11-07 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 665816). This missense change has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 20152563). This variant is present in population databases (rs767340313, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 292 of the DSC2 protein (p.Pro292Ser).
Color Diagnostics, LLC DBA Color Health RCV001186338 SCV001352731 uncertain significance Cardiomyopathy 2022-10-24 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 292 of the DSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 20152563). This variant has been identified in 5/282824 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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