ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)

gnomAD frequency: 0.00001  dbSNP: rs1288080842
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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 RCV002982973 SCV003294443 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-03-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2079900). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 2993 of the SYNE1 protein (p.Leu2993Pro). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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 tolerated. 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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