ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys)

gnomAD frequency: 0.00001  dbSNP: rs746532554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292974 SCV000343236 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV001050190 SCV001214286 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 3963 of the SYNE1 protein (p.Glu3963Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs746532554, ExAC 0.001%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 288975). 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.

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