ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.100G>A (p.Val34Met) (rs1141370)

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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 RCV000781454 SCV000919490 uncertain significance not specified 2017-11-27 criteria provided, single submitter clinical testing Variant summary: The HBB c.100G>A (p.Val34Met) variant (also known as Hb Rio Claro) involves the alteration of a non-conserved nucleotide and is predicted to be damaging by 2/3 in silico tools (SNPsandGO and Mutation taster not captured due to low reliability index). This variant is absent in 246118 control chromosomes (gnomAD). This variant was detected in a 4-year-old Caucasian Brazilian boy of Italian descent with Hb Hasharon [alfa47(CE5)Asp>His] and HBA2 gene deletion (-alfa 3.7) and in his mother with the same genotype (Grignoli_1999). Hematologically, the child had no anemia and presented with only mild microcytosis and hypochromia, probably resulting from the presence of the alfa-thal. The mother had moderate microcytic and hypochromic anemia resulting from a concomitant iron deficiency. The authors assume that the complex association of this variant with Hb Hasharon and alfa-thal deletion might contribute to the anemia observed in the patient and his mother. Tests for Hb stability were performed by incubation at 50C and by the isopropanol test and this Hb variant was found to have normal stability. Because of limited information available, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
OMIM RCV000016833 SCV000037103 other HEMOGLOBIN RIO CLARO 2017-12-12 no assertion criteria provided literature only

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