ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys)

gnomAD frequency: 0.00005  dbSNP: rs200360218
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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) RCV000180773 SCV000233261 uncertain significance not provided 2014-09-17 criteria provided, single submitter clinical testing
Invitae RCV001237930 SCV001410721 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-07-07 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 199251). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs200360218, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 6172 of the SYNE1 protein (p.Glu6172Lys).
Mayo Clinic Laboratories, Mayo Clinic RCV000180773 SCV004223958 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing

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