ClinVar Miner

Submissions for variant NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)

dbSNP: rs1569006250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697295 SCV000825895 pathogenic Progressive myoclonic epilepsy 2018-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln22*) in the CSTB gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CSTB-related disease. Loss-of-function variants in CSTB are known to be pathogenic (PMID: 8596935). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784328 SCV002023428 likely pathogenic Unverricht-Lundborg syndrome 2022-11-01 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001784328 SCV004171848 likely pathogenic Unverricht-Lundborg syndrome criteria provided, single submitter clinical testing

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