ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14299G>A (p.Glu4767Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004997723 SCV005621995 uncertain significance not provided 2024-02-09 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Computational tools disagree on the variant's effect on normal protein function.
Labcorp Genetics (formerly Invitae), Labcorp RCV005223156 SCV005869139 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 4696 of the SYNE1 protein (p.Glu4696Lys). This variant is present in population databases (rs150902491, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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