ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.15818A>G (p.Gln5273Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003070698 SCV003445804 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-01-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 5273 of the SYNE2 protein (p.Gln5273Arg). This variant is present in population databases (rs757485374, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. 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.

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