ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.10864G>C (p.Glu3622Gln)

gnomAD frequency: 0.00008  dbSNP: rs374132878
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038739 SCV001202227 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-09-20 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 glutamine 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: 837413). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs374132878, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 3622 of the SYNE2 protein (p.Glu3622Gln).

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