ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.320T>A (p.Leu107Gln)

dbSNP: rs33941844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV000016630 SCV005329471 pathogenic METHEMOGLOBINEMIA, BETA TYPE 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.320T>A(p.Leu107Gln) in HBB gene has been reported in patients affected with HBB related disorders (Philippe et. al., 1993; Kohne et. al., 1976). Functional studies shows that this missense change affects HBB gene function (Kohne et. al., 1976). The observed variant is absent in gnomAD exomes database. This variant has been submitted to the ClinVar database as Pathogenic. The amino acid change p.Leu107Gln in HBB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence (Polyphen - probably damaging , SIFT - damaging and MutationTaster - disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid Leu at position 107 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000016630 SCV000036899 pathogenic METHEMOGLOBINEMIA, BETA TYPE 1993-08-01 no assertion criteria provided literature only

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