ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287289 SCV002577553 pathogenic Hereditary spherocytosis type 2 2022-01-24 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP5
GeneDx RCV004812440 SCV005437570 pathogenic not provided 2024-06-10 criteria provided, single submitter clinical testing Has been reported in a patient, who also harbored a variant in the SLC4A1 gene, with hereditary spherocytosis in published literature; familial segregation information and additional clinical information were not included in this report (PMID: 32436265); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32436265)
Labcorp Genetics (formerly Invitae), Labcorp RCV004812440 SCV005782154 pathogenic not provided 2024-07-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1705*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary spherocytosis (PMID: 32436265). ClinVar contains an entry for this variant (Variation ID: 1708136). For these reasons, this variant has been classified as Pathogenic.

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