ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.56T>G (p.Val19Gly)

dbSNP: rs35382661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251065 SCV000697139 uncertain significance not specified 2020-07-16 criteria provided, single submitter clinical testing Variant summary: HBB c.56T>G (p.Val19Gly) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251262 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.56T>G has been reported in the literature but the carriers were found to have a mild or no phenotype (Pobedimskaya_1993, Smith_2016). Spuriously low values of HbA1c was also noted in an individual carrying this variant (Smith_2013). These reports however, do not provide unequivocal conclusions about association of the variant with Hemoglobinopathy. The variant was found to be unstable in functional studies (Pobedimskaya_1993, Scheps_2019). One other ClinVar submitter (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589269 SCV001134234 uncertain significance not provided 2020-02-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834854 SCV002091599 uncertain significance beta Thalassemia 2020-12-27 no assertion criteria provided clinical testing

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