ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1967C>A (p.Pro656His)

gnomAD frequency: 0.00002  dbSNP: rs1288233995
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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 RCV001191264 SCV001359013 uncertain significance Cardiomyopathy 2024-03-06 criteria provided, single submitter clinical testing This missense variant replaces proline with histidine at codon 656 of the DSG2 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 DSG2-related disorders in the literature. 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.
All of Us Research Program, National Institutes of Health RCV004010499 SCV004819596 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2024-05-30 criteria provided, single submitter clinical testing This missense variant replaces proline with histidine at codon 656 of the DSG2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on 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 not been identified in the general population by the Genome Aggregation Database (gnomAD). 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.
Ambry Genetics RCV004994310 SCV005575770 uncertain significance Cardiovascular phenotype 2024-09-14 criteria provided, single submitter clinical testing The p.P656H variant (also known as c.1967C>A), located in coding exon 13 of the DSG2 gene, results from a C to A substitution at nucleotide position 1967. The proline at codon 656 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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