ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) (rs148522587)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179666 SCV000231950 uncertain significance not provided 2015-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000536965 SCV000897276 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385530 SCV000461299 uncertain significance Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295905 SCV000461300 uncertain significance Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000536965 SCV000649002 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 3499 of the SYNE1 protein (p.Arg3499His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs148522587, ExAC 0.02%). This variant has not been reported in the literature in individuals with a SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 198363). 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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