ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) (rs752059006)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000393719 SCV000329912 pathogenic not provided 2016-05-31 criteria provided, single submitter clinical testing The R728X variant in the SACS gene has been reported previously in the homozygous and compound heterozygous states in association with cerebellar ataxia (Vermeer et al., 2008; Synofzik et al., 2013; Karaca et al., 2015). This variant is predicted to cause loss of normal protein function through protein truncation. The R728X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R728X as a pathogenic variant.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454220 SCV000537976 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research

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