ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24566T>A (p.Leu8189Gln)

gnomAD frequency: 0.00001  dbSNP: rs201193141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372514 SCV001569184 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-11-08 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of SYNE1-related conditions (Invitae). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 8118 of the SYNE1 protein (p.Leu8118Gln). This variant is present in population databases (rs201193141, gnomAD 0.003%). ClinVar contains an entry for this variant (Variation ID: 1062761). 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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