ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.15404A>G (p.Tyr5135Cys)

gnomAD frequency: 0.00001  dbSNP: rs556819169
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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 RCV001955972 SCV002222677 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1444712). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 5135 of the SYNE2 protein (p.Tyr5135Cys). This variant is present in population databases (rs556819169, gnomAD 0.007%).

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