ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22645C>T (p.Arg7549Cys)

gnomAD frequency: 0.00003  dbSNP: rs549357903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925779 SCV002177631 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 7478 of the SYNE1 protein (p.Arg7478Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs549357903, ExAC 0.01%). This variant has been observed in individual(s) with cerebellar ataxia (PMID: 31692161). 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.

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