ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002816415 SCV003213189 pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SPTB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp63*) in the SPTB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTB are known to be pathogenic (PMID: 1391962, 1498324, 8844207, 26830532, 27292444).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989787 SCV004806951 pathogenic Hereditary spherocytosis type 2 2024-03-26 criteria provided, single submitter clinical testing

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