ClinVar Miner

Submissions for variant NM_000184.3(HBG2):c.85C>A (p.Leu29Met)

dbSNP: rs1278163109
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra RCV000984481 SCV000999198 pathogenic Cyanosis, transient neonatal 2019-11-27 criteria provided, single submitter clinical testing The p.L29M variant (Hb F-M Viseu) associates with the methemoglobin (Met-Hb) phenotype. The mutation occurs in the Y-globin chain, hence the methaemoglobinaemia is transitory, resolving with the transition from fetal to adult haemoglobin. It was first reported in neonates with cyanosis.

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