ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4298C>A (p.Thr1433Lys)

dbSNP: rs139798419
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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 RCV001961100 SCV002240400 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-10-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 1440 of the SYNE1 protein (p.Thr1440Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is present in population databases (rs139798419, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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 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.
PreventionGenetics, part of Exact Sciences RCV004538692 SCV004711754 uncertain significance SYNE1-related disorder 2024-01-07 no assertion criteria provided clinical testing The SYNE1 c.4319C>A variant is predicted to result in the amino acid substitution p.Thr1440Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. 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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