ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.661C>A (p.Arg221=)

dbSNP: rs750266004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289283 SCV001477006 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770463 SCV004593048 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-04-29 criteria provided, single submitter clinical testing This sequence change affects codon 228 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 not present in population databases (gnomAD no frequency). 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: 995289). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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