ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.353A>G (p.His118Arg) (rs33935673)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000586298 SCV000603933 likely benign not provided 2017-08-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029992 SCV000052647 uncertain beta Thalassemia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000586298 SCV000697123 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing Variant summary: The HBB c.353A>G (p.His118Arg) variant, also known as HbP-Galveston, causes a missense change involving the alteration of a conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). However, a functional study showed that HbP does not differ significantly from WT (Hb A) with regard to oxygen affinity or stability (Di Iorio_Blut_1975).The variant of interest has not been found in a large, broad control population, ExAC in 121386 control chromosomes. This variant was reported in multiple individuals heterozygously and in compound heterozygosity with HbC or HbS and b-thal variants. Compound hets patients showed minimal to no clinical features and hematological values were compared to b-thal, HbC or HbS carriers (Di Iorio_Blut_1975, Huisman_Febbs Lett_1978). Although the clinical phenotype in case of homozygosity for the variant has not been reported yet, due to the lack of potentiating effect of the variant to the clinical presentation in cases of compound heterozygosity, the variant is classified as VUS-Possibly Benign.

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