ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.445G>T (p.Val149Phe)

dbSNP: rs372606274
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524093 SCV001733862 uncertain significance Cardiomyopathy 2020-06-24 criteria provided, single submitter clinical testing This missense variant replaces valine with phenylalanine at codon 149 of the DSG2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with arrhythmogenic right ventricular dysplasia/cardiomyopathy (PMID: 20031616, 21606396). This variant has not been identified 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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