ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) (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 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. While this particular variant has not been reported in the literature, truncating variants in SACS are known to be pathogenic (PMID: 18465152). For these reasons, this variant has been classified as Pathogenic.
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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