ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.10C>A (p.Leu4Met)

dbSNP: rs34126315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780309 SCV000917476 uncertain significance not specified 2017-09-06 criteria provided, single submitter clinical testing Variant summary: The HBB c.10C>A (p.Leu4Met) variant involves the alteration of a conserved nucleotide and 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 121336 control chromosomes from ExAC. This variant, also known as Hb Niguarda, has been reported in a case for whom clinical/hematological data is not provided and is regarded as abnormal hemoglobin (Giambona_2011). HbVar database reports a case with hematological profiles Hb A2: 4.7%, Hb F: 1.1%, HbX: 94.2%, Hb: 10.3 g/dL, MCV: 63.1 fL and tMCH: 20.6pg. The case also carried HBB p.Gln40X and HPFH -225_-222del in heterozygous state and HFE H63D in homozygous state. Thus, there is no clear-cut evidence as to whether this variant is causative or a modifier of hemoglobinopathy. Taken together, this variant is currently classified as "Variant of Unknown Significance (VUS)," until additional information becomes available (ie, clinical and/or functional studies).
Natera, Inc. RCV001272130 SCV001453790 uncertain significance beta Thalassemia 2020-09-16 no assertion criteria provided clinical testing

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