ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) (rs766241487)

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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 RCV000321295 SCV000343105 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000524964 SCV000897271 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000524964 SCV000649087 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-02-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 6476 of the SYNE1 protein (p.Gly6476Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs766241487, ExAC 0.004%) but has not been reported in the literature in individuals with a SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 288871). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.

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