ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.184A>G (p.Lys62Glu) (rs33995148)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507840 SCV000603946 uncertain significance not specified 2019-05-25 criteria provided, single submitter clinical testing The Hb N-Seattle (HBB: c.184A>G; p.Lys62Glu, also known as Lys61Glu when numbered from the mature protein, rs33995148) has been reported in a heterozygous blood donor with normal clinical presentation. However, its phenotype when found with other pathogenic globin variants is uncertain, and has not been described in the literature. The Hb N-Seattle hemoglobin variant is stable, and comprises half of the total hemoglobin in the individual (HbVar database and references therein). It is listed in ClinVar (Variation ID: 15280), but absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The lysine at residue 62 is moderately conserved, and analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Although Hb N-Seattle has not been associated with clinical symptoms or hemoglobin abnormalities, there is insufficient information to determine its clinical significance with certainty. References: Link to HbVar database for Hb N-Seattle: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=353
OMIM RCV000016510 SCV000036778 other HEMOGLOBIN N (SEATTLE) 2017-12-12 no assertion criteria provided literature only

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