ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.113G>A (p.Trp38Ter)

dbSNP: rs33991059
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506586 SCV000603945 pathogenic not specified 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558431 SCV004294103 pathogenic not provided 2023-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp38*) in the HBB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Beta thalassemia (PMID: 28670940). ClinVar contains an entry for this variant (Variation ID: 439782). For these reasons, this variant has been classified as Pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078348 SCV001244536 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation
Natera, Inc. RCV001078348 SCV002089230 pathogenic beta Thalassemia 2017-03-17 no assertion criteria provided clinical testing

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