ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21909C>G (p.Leu7303=)

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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 RCV003069351 SCV003467407 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-19 criteria provided, single submitter clinical testing This sequence change affects codon 7232 of the SYNE1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SYNE1 protein. This variant is present in population databases (rs765804480, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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