ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met)

dbSNP: rs757366114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555272 SCV000649135 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-09-13 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs757366114, ExAC 0.002%) but has not been reported in the literature in individuals with a SYNE1-related disease. This sequence change replaces threonine with methionine at codon 7926 of the SYNE1 protein (p.Thr7926Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine.

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