ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.382_383del (p.Glu128fs)

dbSNP: rs757179309
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062044 SCV001226814 pathogenic Spastic paraplegia 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu128Serfs*2) in the SACS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). This variant is present in population databases (rs757179309, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with SACS-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 856558). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV001289169 SCV001476815 pathogenic not provided 2020-07-02 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.
Genome-Nilou Lab RCV001785775 SCV002027677 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001785775 SCV004209937 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-08-10 criteria provided, single submitter clinical testing

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