ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys)

gnomAD frequency: 0.00031  dbSNP: rs149918889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732026 SCV000859902 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV001218500 SCV001390383 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1404 of the SYNE1 protein (p.Glu1404Lys). This variant is present in population databases (rs149918889, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596260). 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: "Benign"; 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.
Revvity Omics, Revvity RCV000732026 SCV003824039 uncertain significance not provided 2019-01-17 criteria provided, single submitter clinical testing

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