ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.29C>G (p.Ser10Cys)

dbSNP: rs33918131
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508345 SCV000603944 likely benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985743 SCV001134220 benign not provided 2021-10-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000508345 SCV002041570 uncertain significance not specified 2021-11-24 criteria provided, single submitter clinical testing Variant summary: HBB c.29C>G (p.Ser10Cys) results in a non-conservative amino acid change located in the Globin domain (IPR000971) of 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 4e-06 in 251216 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.29C>G has been reported in the literature in individuals affected with Hemoglobinopathy (e.g. Goncalves_1994). However, this variant was also found in patients in heterozygous or homozygous state, who have normal hematological values (e.g. Colombo_1985, Malcorra-Azpiazu_1993, Cataldo_2012). These data do not allow any conclusion about variant significance. At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant (Tondo_1974). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
OMIM RCV000016556 SCV000036824 other HEMOGLOBIN PORTO ALEGRE 2000-05-09 no assertion criteria provided literature only

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