ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)

gnomAD frequency: 0.00001  dbSNP: rs763325410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519943 SCV000618260 likely pathogenic not provided 2017-07-07 criteria provided, single submitter clinical testing The R6979X variant has been previously reported in an individual with cerebellar ataxia who harbored an additional SYNE1 nonsense variant (Synofzik et al., 2016). The R6979X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay.
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814183 SCV001755478 pathogenic Abnormal central motor function 2021-07-10 criteria provided, single submitter clinical testing
OMIM RCV000787307 SCV000926244 pathogenic Autosomal recessive ataxia, Beauce type 2019-07-11 no assertion criteria provided literature only

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