ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.190C>T (p.His64Tyr) (rs33922873)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988480 SCV001138217 pathogenic beta Thalassemia 2019-05-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000988480 SCV001360657 pathogenic beta Thalassemia 2019-07-02 criteria provided, single submitter clinical testing Variant summary: HBB c.190C>T (p.His64Tyr) results in a conservative amino acid change located in a heme binding site (InterPro) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251426 control chromosomes (gnomAD). The variant (also known as Hb M-Saskatoon) is widely regarded as causing hemoglobin M (HbM) disease, and has been reported in the literature in several affected individuals (e.g. Efremov_1974, Waye_1994, Suryantoro_1995, Kedar_2005, Brunner-Agten_2010, Garcia-Morin_2019). The disorder was observed to be inherited in an autosomal dominant pattern, often occurring as a de novo mutation. 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 pathogenic.
Ambry Genetics RCV001266995 SCV001445176 pathogenic Inborn genetic diseases 2019-04-16 criteria provided, single submitter clinical testing
OMIM RCV000016466 SCV000036734 other HEMOGLOBIN M (SASKATOON) 2018-05-10 no assertion criteria provided literature only
OMIM RCV000641524 SCV000763166 pathogenic HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE 1995-06-01 no assertion criteria provided literature only

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