ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.126del (p.Phe43fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053496 SCV001217762 pathogenic not provided 2019-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe43Leufs*19) in the HBB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with HBB-related conditions (PMID: 1951306, 19460936). This variant is also described as a deletion of a C nucleotide in codon 41 in the literature. Loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). For these reasons, this variant has been classified as Pathogenic.
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV001078354 SCV001244546 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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