ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16390-2A>C (rs759460806)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525942 SCV000641113 pathogenic Spinocerebellar ataxia, autosomal recessive 8 2017-03-01 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 84 of the SYNE1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 23959263). A different variant located at the same nucleotide position (c.16177-2A>C) has been reported to segregate with autosomal recessive cerebellar ataxia in one family (PMID: 17159980). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727362 SCV000707864 pathogenic not provided 2017-04-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000727362 SCV001476985 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing
Invitae RCV001380011 SCV001577935 pathogenic Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-02-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 84 of the SYNE1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 23959263). A different variant located at the same nucleotide position (c.16177-2A>C) has been reported to segregate with autosomal recessive cerebellar ataxia in one family (PMID: 17159980). For these reasons, this variant has been classified as Pathogenic.

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