ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala)

gnomAD frequency: 0.00001  dbSNP: rs372327585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517578 SCV000615532 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV001247216 SCV001420624 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-10-04 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 448541). This variant is present in population databases (rs372327585, ExAC 0.006%). This sequence change replaces glutamic acid with alanine at codon 373 of the SYNE1 protein (p.Glu373Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid 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.
Revvity Omics, Revvity RCV003139715 SCV003825336 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing

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