ClinVar Miner

Submissions for variant NM_000517.6(HBA2):c.64G>C (p.Ala22Pro)

gnomAD frequency: 0.00002  dbSNP: rs281864817
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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 RCV000985728 SCV001134201 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing The HB2 c.64G>C (p.Ala22Pro), also known as Hb Fontainebleau, variant is reported as having normal stability (see HbVar, http://globin.bx.psu.edu/cgi-bin/hbvar/counter, PMID: 2599878 (2009)). This variant has been observed in a screening study of alpha thalassemia carriers (PMID: 29627922 (2018)). It has also been detected in an individual with suspected hemoglobinopathy (PMID: 38708170 (2024)). The variant has been reported in homozygous and compound heterozygous individuals with microcytosis (PMID: 22461654 (2012), 24826794 (2014), 26036869 (2015), and 30728682 (2019)) as well as in individuals with normal red cell indices (PMID: 19657841 (2009)). Based on the available information, we are unable to determine the clinical significance of this variant.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000985728 SCV001157424 likely benign not provided 2022-03-23 criteria provided, single submitter clinical testing

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