Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759799 | SCV000889372 | uncertain significance | not provided | 2018-08-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194401 | SCV001363916 | uncertain significance | not specified | 2019-03-18 | criteria provided, single submitter | clinical testing | Variant summary: HBB c.41C>T (p.Ala14Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 245956 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.41C>T (also known as CD 13(C>T) or CoD13 (C-T)) has been reported in the literature in beta-thalassemia carriers of Asian Indian origin, either present on its own or together with other variants (presumably in cis, as part of a complex allele), some of which are known to be pathogenic (Colah_2009, Agarwal_2000). These reports do not provide unequivocal conclusions about association of the variant with Hemoglobinopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Natera, |
RCV001835952 | SCV002091608 | uncertain significance | beta Thalassemia | 2019-05-22 | no assertion criteria provided | clinical testing |