ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) (rs397516701)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037263 SCV000060920 uncertain significance not specified 2013-01-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp402Asn varia nt in DSG2 has not been reported in the literature nor previously identified by our laboratory. This variant has also not been identified in large European Amer ican and African American populations by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS), though it may be common in other populations. As partic acid (Asp) at position 402 is poorly conserved in evolution with 1 mammal ian species carrying the variant amino acid (asparagine), suggesting that a chan ge may be tolerated. Other computational analyses (biochemical amino acid prope rties, AlignGVGD, PolyPhen2, and SIFT) suggest that the Asp402Asn variant may no t impact the protein, though this information is not predictive enough to rule o ut pathogenicity. Although this data supports that the Asp402Asn variant may be benign, additional studies are needed to fully assess its clinical significance.
Illumina Clinical Services Laboratory,Illumina RCV001125523 SCV001284599 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Health, Inc RCV001525531 SCV001735671 uncertain significance Cardiomyopathy 2020-10-19 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 402 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 cardiovascular disorders in the literature. This variant has been identified in 10/249400 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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