ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) (rs910956017)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426586 SCV000516750 pathogenic not provided 2015-04-20 criteria provided, single submitter clinical testing The Q6157X variant in the SYNE1 gene has not been reported previously as pathogenic nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The Q6157X variant wasnot observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretQ6157X as a pathogenic variant.
Invitae RCV000812312 SCV000952623 pathogenic Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln6157*) in the SYNE1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 379571). Loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 27086870). For these reasons, this variant has been classified as Pathogenic.

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