ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln) (rs771461121)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592756 SCV000702550 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing
Invitae RCV000810161 SCV000950352 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 3970 of the SYNE1 protein (p.Arg3970Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs771461121, ExAC 0.01%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 497827). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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