ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.128T>C (p.Phe43Ser)

dbSNP: rs34378160
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757359 SCV000885552 pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000757359 SCV002588280 pathogenic not provided 2022-03-25 criteria provided, single submitter clinical testing Identified in a 6 month old male with hemolytic anemia and cyanosis in published literature (Park et al., 2012); Published functional studies suggest a damaging effect resulting in lower oxygen affinity and increased 2,3-DPG concentration (May et al., 1975); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as Hb Hammersmith; This variant is associated with the following publications: (PMID: 1911375, 19429541, 24471820, 1201210, 29084024, 22217314)
OMIM RCV000016371 SCV000036639 other HEMOGLOBIN HAMMERSMITH 1988-06-01 no assertion criteria provided literature only
OMIM RCV000016372 SCV000036640 other HEMOGLOBIN CHIBA 1988-06-01 no assertion criteria provided literature only
OMIM RCV000016373 SCV000036641 pathogenic Heinz body anemia 1988-06-01 no assertion criteria provided literature only
Natera, Inc. RCV001831570 SCV002089224 pathogenic beta Thalassemia 2017-03-17 no assertion criteria provided clinical testing

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