ClinVar Miner

Submissions for variant NM_014363.4(SACS):c.7276C>T (rs786204750)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169603 SCV000221123 likely pathogenic Charlevoix-Saguenay spastic ataxia 2015-02-06 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734960 SCV000863142 pathogenic not provided 2018-08-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169603 SCV001737679 pathogenic Charlevoix-Saguenay spastic ataxia 2021-06-10 criteria provided, single submitter clinical testing Variant summary: SACS c.7276C>T (p.Arg2426X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250002 control chromosomes. c.7276C>T has been reported in the literature in individuals affected or suspected to be affected with Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (e.g. Baets_2010, Lee_2014, Shakya_2019). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories cited the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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