ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys)

gnomAD frequency: 0.00015  dbSNP: rs201346604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647643 SCV000769441 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-20 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 6202 of the SYNE1 protein (p.Glu6202Lys). This variant is present in population databases (rs201346604, gnomAD 0.04%). 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: 538396). 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 C55"). 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.
Eurofins Ntd Llc (ga) RCV000733181 SCV000861212 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000733181 SCV001145912 uncertain significance not provided 2021-11-10 criteria provided, single submitter clinical testing

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