ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.344T>C (p.Leu115Pro) (rs36015961)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759070 SCV000888155 pathogenic not provided 2018-04-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781450 SCV000919486 pathogenic Hemoglobinopathy 2018-10-11 criteria provided, single submitter clinical testing Variant summary: HBB c.344T>C (p.Leu115Pro) results in a non-conservative amino acid change located in the Globin domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 245974 control chromosomes (gnomAD). c.344T>C has been reported in the literature in multiple individuals affected with dominant Beta Thalassemia, including a family where the variant segregated with disease in 6 family members (Curuk_1994). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000016775 SCV000037045 pathogenic Beta thalassemia intermedia 2001-02-01 no assertion criteria provided literature only
OMIM RCV000016776 SCV000037046 other HEMOGLOBIN BRESCIA 2017-12-12 no assertion criteria provided literature only
OMIM RCV000016777 SCV000037047 other HEMOGLOBIN DURHAM-N.C. 2017-12-12 no assertion criteria provided literature only

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