ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16405T>A (p.Leu5469Ile)

gnomAD frequency: 0.00009  dbSNP: rs771840766
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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) RCV000594423 SCV000705310 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV001362144 SCV001558147 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 5398 of the SYNE1 protein (p.Leu5398Ile). This variant is present in population databases (rs771840766, gnomAD 0.03%). 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: 499686). 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"). 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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