ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2833A>G (p.Thr945Ala)

gnomAD frequency: 0.00002  dbSNP: rs746297630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060263 SCV001224940 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-07-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 855084). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs746297630, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 945 of the DSG2 protein (p.Thr945Ala).
Color Diagnostics, LLC DBA Color Health RCV001186747 SCV001353324 likely benign Cardiomyopathy 2018-11-03 criteria provided, single submitter clinical testing

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