ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18573+3G>A

gnomAD frequency: 0.00001  dbSNP: rs886044046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000338914 SCV000343200 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV001360018 SCV001555911 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-09 criteria provided, single submitter clinical testing 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. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 288946). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change falls in intron 97 of the SYNE1 gene. It does not directly change the encoded amino acid sequence of the SYNE1 protein. It affects a nucleotide within the consensus splice site.
Revvity Omics, Revvity Omics RCV000338914 SCV003825286 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing

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