ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) (rs371869943)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000373496 SCV000331728 uncertain significance not provided 2016-04-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000681647 SCV000809093 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-05-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000681647 SCV000896348 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000681647 SCV000914617 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-09-13 criteria provided, single submitter clinical testing The SACS c.2996T>C (p.Ile999Thr) missense variant has been reported in a single individual in a compound heterozygous state with a missense variant (Muona et al. 2015). This individual was clinically diagnosed with progressive myoclonus epilepsy but had clinical features consistent for ARSACS. The p.Ile999Thr variant is reported at a frequency of 0.00028 in the African population of the Exome Aggregation Consortium. Based on the limited evidence, the p.Ile999Thr variant is classified as a variant of unknown significance but suspicious for pathogenicity for ARSACS. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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