ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13612G>T (p.Glu4538Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004764829 SCV005374782 uncertain significance Autosomal recessive ataxia, Beauce type criteria provided, single submitter clinical testing The observed stop gained variant c.13612G>T(p.Glu4538Ter) in the SYNE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Loss of function variants have been previously reported to be disease causing (Gama MT, et al., 2016). Computational evidence (MutationTaster - Disease causing) predicts damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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