ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15918-12A>G (rs606231134)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000423940 SCV000706697 pathogenic not provided 2017-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763141 SCV000893701 pathogenic Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000423940 SCV000517245 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing The c.15705-12A>G variant in the SYNE1 gene is one of the most common variants identified in French Canadian patients with cerebellar ataxia (Gros-Louis et al., 2007; Dupre et al., 2007). The c.15705-12A>G variant was not observed in approximately 6500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating itis not a common benign variant in these populations. This variant creates a cryptic spliceacceptor site for intron 81, which causes abnormal gene splicing and a premature stop codon.We interpret c.15705-12A>G as a pathogenic variant.
OMIM RCV000002416 SCV000022574 pathogenic Spinocerebellar ataxia, autosomal recessive 8 2007-07-01 no assertion criteria provided literature only

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