ClinVar Miner

Submissions for variant NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)

dbSNP: rs33986902
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811180 SCV001474211 uncertain significance not provided 2020-04-06 criteria provided, single submitter clinical testing The Hb Swan River variant (HBA1: c.20A>G; p.Asp7Gly, also known as Asp6Gly when numbered from the mature protein, rs33986902) is reported in the literature in normal individuals, as well as an individual with erythrocytosis (Como 1989, Harano 1996, HbVar database and references therein). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The aspartate at codon 7 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Isopropanol precipitation gives conflicting results, with one study suggesting slight instability and another report suggesting normal stability (Como 1989, Harano 1996). Due to limited information, the clinical significance of the Hb Swan River variant is uncertain at this time. References: HbVar link to Hb Swan River: http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=9 Como PF et al. Hb Swan River [alpha 6(A4) Asp----Gly] initial identification in an Australian family. Hemoglobin. 1989;13(4):393-6. Harano T et al. HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man. Hemoglobin. 1996 Feb;20(1):75-8.
OMIM RCV000017165 SCV000037437 other HEMOGLOBIN SWAN RIVER 2019-11-01 no assertion criteria provided literature only
OMIM RCV000641218 SCV000762857 pathogenic Erythrocytosis, familial, 7 1996-02-01 no assertion criteria provided literature only
Natera, Inc. RCV001831579 SCV002093859 uncertain significance alpha Thalassemia 2021-09-21 no assertion criteria provided clinical testing

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