ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3095C>T (p.Thr1032Ile)

gnomAD frequency: 0.00005  dbSNP: rs775546937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001321799 SCV001512646 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1032 of the DSG2 protein (p.Thr1032Ile). This variant is present in population databases (rs775546937, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1021951). 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. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507401 SCV001712939 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524848 SCV001734810 likely benign Cardiomyopathy 2020-12-02 criteria provided, single submitter clinical testing

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