ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.125T>C (p.Phe42Ser) (rs33926796)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587370 SCV000697075 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing Variant summary: The HBB c.125T>C (p.Phe42Ser also known as Hb Denver) variant causes a missense change involving the alteration of a conserved nucleotide, which 3/3 in silico tools (SNPs&GO and MutationTaster not captured due to low reliability index) predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP). A publication cites the variant in a family that presented as asymptomatic with reduced O2 affinity, cyanosis and mild anemia. OMIM cites the variant without a classification. Therefore, until additional information becomes available, the variant of interest has been classified as a "Variant of Uncertain Signficance."
OMIM RCV000016795 SCV000037065 other HEMOGLOBIN DENVER 2017-12-12 no assertion criteria provided literature only

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