ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) (rs750732115)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328754 SCV001519944 pathogenic Charlevoix-Saguenay spastic ataxia 2019-12-26 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001386448 SCV001586676 pathogenic Spastic paraplegia 2020-09-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Arg2906*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1674 amino acids of the SACS protein. This variant is present in population databases (rs750732115, ExAC 0.003%). This variant has not been reported in the literature in individuals with SACS-related conditions. This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Tyr4538*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Medical Genetics Laboratory,Tarbiat Modares University RCV001328754 SCV001622770 pathogenic Charlevoix-Saguenay spastic ataxia 2020-03-01 criteria provided, single submitter clinical testing
Genomics England Pilot Project,Genomics England RCV001328754 SCV001760320 likely pathogenic Charlevoix-Saguenay spastic ataxia no assertion criteria provided clinical testing

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