ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2665C>T (p.Arg889Ter)

dbSNP: rs1599368734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001836885 SCV000927090 pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
Invitae RCV003768469 SCV004640891 pathogenic not provided 2023-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg889*) in the SETBP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SETBP1 are known to be pathogenic (PMID: 21037274, 25217958). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with SETBP1-related conditions (PMID: 32345733). ClinVar contains an entry for this variant (Variation ID: 636309). For these reasons, this variant has been classified as Pathogenic.

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