ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu)

gnomAD frequency: 0.00002  dbSNP: rs370644295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598018 SCV000709320 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
Invitae RCV000820846 SCV000961577 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 2670 of the SYNE1 protein (p.Arg2670Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs370644295, ExAC 0.007%). 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: 502539). 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 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.
Athena Diagnostics Inc RCV000598018 SCV002771378 uncertain significance not provided 2023-06-26 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 higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.

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