ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.263C>A (p.Thr88Lys)

dbSNP: rs33993568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506646 SCV000601264 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506646 SCV001478725 uncertain significance not specified 2021-09-20 criteria provided, single submitter clinical testing Variant summary: c.263C>A (p.Thr88Lys), also known as Hb D-Ibadan, results in a non-conservative amino acid change located in the Globin domain (IPR000971) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251424 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.263C>A has been reported in one Nigerian family, a propositus and his mother were compound heterozygous for this variant and HbS (DV) and both were clinically asymptomatic (Watson-Williams_1965). Similarly, in two other subjects of African-American ethnicity, compound heterozygosity with other DVs (HbS and c.-79A>G) did not cause disease (Redding-Lallinger_2002). Additionally, in one reported case who was compound heterozygosity with HbC had mild anemia (Kundrapu_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
OMIM RCV000016313 SCV000036581 other HEMOGLOBIN D (IBADAN) 2017-12-12 no assertion criteria provided literature only
Natera, Inc. RCV001826463 SCV002089205 uncertain significance beta Thalassemia 2020-05-18 no assertion criteria provided clinical testing

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