ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) (rs923921184)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627327 SCV000748319 likely pathogenic not provided 2018-04-04 criteria provided, single submitter clinical testing The Q558X variant in the SACS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q558X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q558X as a likely pathogenic variant.
Invitae RCV001065954 SCV001230946 pathogenic Spastic paraplegia 2019-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln558*) in the SACS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 523854). Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). For these reasons, this variant has been classified as Pathogenic.

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