ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.344C>T (p.Pro115Leu) (rs267607269)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508141 SCV000601211 uncertain significance not specified 2017-05-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508141 SCV001157417 likely benign not specified 2018-10-30 criteria provided, single submitter clinical testing The HBA2 c.344C>T; Pro114Leu variant (rs267607269), also known as Hb Nouakchott, has been reported in the heterozygous state in asymptomatic individuals with normal hematological parameters (see link to HbVar and references therein, Pondman 2018). It contains an entry in ClinVar (Variation ID: 439115) and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The proline at codon 114 is moderately conserved, but computational algorithms (PolyPhen-2: benign, SIFT: damaging) are inconclusive on the effect of this variant on protein structure and/or function. Based on available information, the Hb Nouakchott variant is considered likely benign. REFERENCES Link to HbVar: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=177 Pondman K et al. Hb Nouakchott [a114(GH2)Pro?Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families. Hemoglobin. 2018 Jan;42(1):51-53.

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