ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17576C>T (p.Pro5859Leu)

gnomAD frequency: 0.00005  dbSNP: rs769058871
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220025 SCV001391996 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-03-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 948716). This variant is present in population databases (rs769058871, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 5788 of the SYNE1 protein (p.Pro5788Leu).

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