ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.647T>C (p.Val216Ala)

dbSNP: rs1564513288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731350 SCV000859156 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Invitae RCV001855657 SCV002159351 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-10-19 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 595718). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 223 of the SYNE1 protein (p.Val223Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. 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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