ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)

dbSNP: rs1057518818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414967 SCV000492650 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-11-18 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198264 SCV001369138 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.
Invitae RCV001198264 SCV002191822 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-03-31 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 373989). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 573 of the DSC2 protein (p.Asn573Asp).
Color Diagnostics, LLC DBA Color Health RCV003532097 SCV004363082 uncertain significance Cardiomyopathy 2022-03-08 criteria provided, single submitter clinical testing This missense variant replaces asparagine with aspartic acid at codon 573 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 cardiovascular disorders in the literature. This variant has been identified in 1/250996 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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