ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17347-6C>T

gnomAD frequency: 0.00007  dbSNP: rs201692248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607737 SCV000720881 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000729837 SCV000857529 uncertain significance not provided 2017-10-16 criteria provided, single submitter clinical testing
Invitae RCV001079453 SCV001091890 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531533 SCV003563810 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.17134-6C>T intronic alteration results from a C to T substitution 6 nucleotides before exon 91 (coding exon 90) of the SYNE1 gene. Based on data from gnomAD, the T allele has an overall frequency of 0.02% (44/251412) total alleles studied. The highest observed frequency was 0.1% (10/10078) of Ashkenazi Jewish alleles. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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