ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)

dbSNP: rs2139621075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano RCV001534602 SCV001469073 pathogenic Hereditary spherocytosis type 2 2019-11-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120529 SCV003800352 pathogenic not provided 2022-03-28 criteria provided, single submitter clinical testing The SPTB c.1024C>T; p.Gln342Ter variant is reported in the literature in one individual affected with hereditary spherocytosis (Fermo 2021) . This variant is also reported in ClinVar (Variation ID: 992929). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic.

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