ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.46del (p.Trp16fs) (rs63749960)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508660 SCV000605841 pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590721 SCV000697134 pathogenic beta Thalassemia 2017-08-23 criteria provided, single submitter clinical testing Variant summary: The HBB c.46delT (p.Trp16Glyfs) variant results in a premature termination codon, predicted to cause a truncated or absent HBB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., c.51delC [p.Lys18fs). MutationTaster predicts a damaging outcome for this variant. The variant has been identified in numerous patients, including homozygotes, and is a relatively common disease-associated mutation in South Asian and Indonesian populations. This variant is absent in 121364 control chromosomes (ExAC). Taken together, this variant is classified as pathogenic.
Invitae RCV000508660 SCV000960078 pathogenic not provided 2019-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp16Glyfs*4) 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 beta thalassemia (PMID: 7928376, 28680605). This variant is also known as CD 15 (-T) in the literature. ClinVar contains an entry for this variant (Variation ID: 38647). Loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000590721 SCV000793412 pathogenic beta Thalassemia 2017-08-16 no assertion criteria provided clinical testing
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics RCV000590721 SCV001244582 pathogenic beta Thalassemia 2019-11-25 no assertion criteria provided curation

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