ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2696C>T (p.Ala899Val)

dbSNP: rs1446243136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774469 SCV000908171 uncertain significance Cardiomyopathy 2023-12-05 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the cytoplasmic desmoglein repeat 1 of the DSG2 protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/245644 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Ambry Genetics RCV002424768 SCV002743449 uncertain significance Cardiovascular phenotype 2022-03-03 criteria provided, single submitter clinical testing The p.A899V variant (also known as c.2696C>T), located in coding exon 15 of the DSG2 gene, results from a C to T substitution at nucleotide position 2696. The alanine at codon 899 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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