ClinVar Miner

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

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Total submissions: 6
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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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174932 SCV001338379 pathogenic Beta-thalassemia dominant 2021-07-26 criteria provided, single submitter clinical testing Variant summary: HBB c.344T>C (p.Leu115Pro) 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 was absent in 251222 control chromosomes (gnomAD). c.344T>C (aka. Hb Durham-N.C. or Hb Brescia) has been reported in the literature in multiple individuals affected with Dominant Beta Thalassemia (e.g. Curuk_1994, deCastro_1994, Rund_1997, Park_2002, Ropero_2012), and in many of these cases inclusion body formation was also noted. 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. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and both of them classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000759070 SCV001714963 pathogenic not provided 2021-03-23 criteria provided, single submitter clinical testing
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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