ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)

gnomAD frequency: 0.00008  dbSNP: rs180908546
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644631 SCV000766333 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188636 SCV001355722 uncertain significance Cardiomyopathy 2023-01-10 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 46 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 25/282612 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.
GeneDx RCV000996665 SCV001790140 uncertain significance not provided 2021-05-05 criteria provided, single submitter clinical testing Not published in association with a cardiac phenotype to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#536266; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26768331)
Ambry Genetics RCV002386076 SCV002700324 likely benign Cardiovascular phenotype 2021-08-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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