ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys)

dbSNP: rs372633466
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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 RCV001224539 SCV001396743 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2934 of the SYNE1 protein (p.Arg2934Cys). This variant is present in population databases (rs372633466, gnomAD 0.007%). This missense change has been observed in individual(s) with spastic ataxia (PMID: 29482223). ClinVar contains an entry for this variant (Variation ID: 952428). 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 tolerated. 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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