ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000411243 SCV000699370 pathogenic Charlevoix-Saguenay spastic ataxia 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.
Paris Brain Institute,Inserm - ICM RCV000411243 SCV001451191 pathogenic Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001310676 SCV001500568 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000411243 SCV000485547 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-01-05 no assertion criteria provided clinical testing

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