ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.41C>T (p.Ala14Val)

gnomAD frequency: 0.00002  dbSNP: rs35203747
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Total submissions: 3
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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, LabCorp 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, Inc. RCV001835952 SCV002091608 uncertain significance beta Thalassemia 2019-05-22 no assertion criteria provided clinical testing

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