ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) (rs886042380)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000407768 SCV000333735 uncertain significance not provided 2015-08-18 criteria provided, single submitter clinical testing
Invitae RCV000702774 SCV000831643 pathogenic Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys4124Argfs*2) 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). While this particular variant has not been reported in the literature, truncating variants in SYNE1 are known to cause autosomal recessive spinocerebellar ataxia (PMID: 17159980, 23959263). ClinVar contains an entry for this variant (Variation ID: 282324). For these reasons, this variant has been classified as Pathogenic.

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