ClinVar Miner

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

gnomAD frequency: 0.00009  dbSNP: rs371869943
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 2021-07-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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.
Genome-Nilou Lab RCV000681647 SCV002026534 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV002519084 SCV003241934 benign Spastic paraplegia 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000373496 SCV004229947 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.

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