ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia RCV001255708 SCV001424324 pathogenic Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing
Invitae RCV001383726 SCV001582978 pathogenic Spastic paraplegia 2020-06-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Arg1645*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2,935 amino acids of the SACS protein. This variant is present in population databases (rs770901638, ExAC 0.002%). This variant has been observed in individual(s) with autosomal recessive spastic ataxia of Charlevoix–Saguenay (PMID: 26288984, 28972115). It is also known as c.4492C>T (p.Arg1498*) in the literature. 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.

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