ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)

dbSNP: rs1060503431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470443 SCV000552969 pathogenic Spastic paraplegia 2016-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in SACS are known to be pathogenic (PMID: 18465152). This sequence change deletes 4 nucleotides from exon 10 of the SACS mRNA (c.9561_9564delGTTT), causing a frameshift at codon 3188. This creates a premature translational stop signal in the last exon of the SACS mRNA (p.Phe3188*). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated SACS protein.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283763 SCV001469132 likely pathogenic Charlevoix-Saguenay spastic ataxia 2020-08-07 no assertion criteria provided clinical testing

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