ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg)

gnomAD frequency: 0.00001  dbSNP: rs747550581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002043761 SCV002309541 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 4456 of the SYNE1 protein (p.Gln4456Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs747550581, ExAC 0.001%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Revvity Omics, Revvity RCV003138055 SCV003824633 uncertain significance not provided 2021-03-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003138055 SCV004229234 uncertain significance not provided 2022-10-26 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 uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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