ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) (rs111033604)

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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 RCV001286658 SCV001473267 uncertain significance none provided 2020-08-27 criteria provided, single submitter clinical testing The Hb Park Ridge variant (HBA2: c.30C>G; p.Asn10Lys, also known as Asn9Lys when numbered from the mature protein, rs111033604) is reported in the literature in the heterozygous state in a healthy individual with normal hematology (Hoyer 2002, HbVar database). However, the phenotype of this variant in the presence of other alpha globin variants is unknown. The Hb Park Ridge variant is reported in ClinVar (Variation ID: 15650), but is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database). The asparagine at residue 9 is weakly conserved, and computational algorithms (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the Asn9Lys variant is uncertain at this time. References: Link to HbVar database for Hb Park Ridge: Hoyer JD et al. Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge (alpha9(alpha7)Asn-->Lys (alpha2)), Hb Norton (alpha72(EF1)His-->Asp (alpha2)), Hb Lombard (alpha103(G10)His-->Tyr (alpha2)), and Hb San Antonio (A113(GH2)Leu-->Arg (A2)). Hemoglobin. 2002 May;26(2):175-9.
OMIM RCV000016936 SCV000037207 other HEMOGLOBIN PARK RIDGE 2013-03-28 no assertion criteria provided literature only

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