ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) (rs565203731)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000411243 SCV000699370 pathogenic Spastic ataxia Charlevoix-Saguenay type 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The SACS c.11374C>T (p.Arg3792X) variant results in a premature termination codon, predicted to cause a truncated or absent SACS protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Mutation taster predicts a damaging outcome for this variant. This variant is absent in 121060 control chromosomes while it was reported in multiple ARSACS patients indicating causality. In addition a clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic.
Counsyl RCV000411243 SCV000485547 likely pathogenic Spastic ataxia Charlevoix-Saguenay type 2016-01-05 no assertion criteria provided clinical testing

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