ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11381T>A (p.Met3794Lys)

gnomAD frequency: 0.00002  dbSNP: rs143519691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881228 SCV002143149 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 3779 of the SYNE1 protein (p.Met3779Lys). This variant is present in population databases (rs143519691, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1378600). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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.
PreventionGenetics, part of Exact Sciences RCV004538572 SCV004114655 uncertain significance SYNE1-related disorder 2023-03-20 criteria provided, single submitter clinical testing The SYNE1 c.11336T>A variant is predicted to result in the amino acid substitution p.Met3779Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0097% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-152673361-A-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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