ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.2347A>C (p.Lys783Gln)

gnomAD frequency: 0.00001  dbSNP: rs1259951823
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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 RCV001954842 SCV002204389 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1423576). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 790 of the SYNE1 protein (p.Lys790Gln).

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