Total submissions: 4
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, |
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, |
RCV001826463 | SCV002089205 | uncertain significance | beta Thalassemia | 2020-05-18 | no assertion criteria provided | clinical testing |