ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)

dbSNP: rs1868700605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391623 SCV001451185 pathogenic Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing
Invitae RCV001880217 SCV002274146 likely pathogenic Spastic paraplegia 2021-10-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SACS protein function. ClinVar contains an entry for this variant (Variation ID: 989211). This missense change has been observed in individuals with autosomal recessive spastic ataxia of Charlevoix-Saguenay (PMID: 26288984, 30638817). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 2217 of the SACS protein (p.Pro2217Gln).

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