ClinVar Miner

Submissions for variant NM_033071.3(SYNE1):c.11384C>T (p.Thr3795Met) (rs375577011)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729288 SCV000856935 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000530488 SCV000897275 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000530488 SCV000649013 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-06-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 3795 of the SYNE1 protein (p.Thr3795Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs375577011, ExAC 0.06%). This variant has not been reported in the literature in individuals with a SYNE1-related disease. 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on SYNE1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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