ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19893+6T>C

gnomAD frequency: 0.00002  dbSNP: rs377413112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553234 SCV000649092 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-07-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs377413112, ExAC 0.003%). This sequence change falls in intron 106 of the SYNE1 gene. It does not directly change the encoded amino acid sequence of the SYNE1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 471018). 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies.
Eurofins Ntd Llc (ga) RCV000734227 SCV000862351 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing

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