ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser)

gnomAD frequency: 0.00001  dbSNP: rs766187198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178149 SCV001342521 uncertain significance Cardiomyopathy 2023-03-30 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 523 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 not been reported in individuals affected with DSC2-related disorders in the literature. This variant has been identified in 2/251138 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.
Invitae RCV001875880 SCV002159349 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-04-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DSC2-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 919782). This variant is present in population databases (rs766187198, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 523 of the DSC2 protein (p.Asn523Ser).
Ambry Genetics RCV003259138 SCV003967075 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.1568A>G (p.N523S) alteration is located in exon 11 (coding exon 11) of the DSC2 gene. This alteration results from a A to G substitution at nucleotide position 1568, causing the asparagine (N) at amino acid position 523 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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