ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) (rs727504770)

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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 RCV000156083 SCV000205796 uncertain significance not specified 2018-12-03 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000687403 SCV000814967 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 699 of the DSG2 protein (p.Ser699Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs727504770, 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: 179294). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color Health, Inc RCV001188629 SCV001355713 uncertain significance Cardiomyopathy 2019-11-27 criteria provided, single submitter clinical testing

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