ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) (rs371146201)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150543 SCV000197766 uncertain significance not specified 2013-09-13 criteria provided, single submitter clinical testing The Glu769Lys variant in DSG2 has not been reported in individuals with cardiomy opathy but has been identified in 3/3994 African American chromosomes by the NHL BI Exome Sequencing Project (; dbSNP rs37114620 1). Computational analyses (biochemical amino acid properties, conservation, Ali gnGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an imp act to the protein. Additional information is needed to fully assess the clinica l significance of the Glu769Lys variant.
Invitae RCV000705050 SCV000834030 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-09-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 769 of the DSG2 protein (p.Glu769Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs371146201, ExAC 0.04%). This variant has not been reported in the literature in individuals with DSG2-related disease. ClinVar contains an entry for this variant (Variation ID: 163217). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5
Color Health, Inc RCV001181125 SCV001346211 uncertain significance Cardiomyopathy 2019-07-11 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171269 SCV000221466 likely pathogenic not provided no assertion criteria provided research

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