ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.337C>G (p.His113Asp)

gnomAD frequency: 0.00001  dbSNP: rs34830032
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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 RCV001283981 SCV001160033 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing The Hb Hopkins-II variant (HBA1 c.337C>G; p.His113Asp, also known as His112Asp when numbered from the mature protein, rs34830032, HbVar ID: 173) is reported in the literature without clinical information (see HbVar link and references therein). This variant is reported in ClinVar (Variation ID: 15745), and is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The histidine at codon 113 is highly conserved, and computational are uncertain whether this variant is neutral or deleterious (REVEL: 0.535). Due to limited information, the clinical significance of the Hb Hopkins-II variant is uncertain at this time. References: Link to HbVar: https://globin.bx.psu.edu/hbvar/hbvar.html
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283981 SCV001469514 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing
OMIM RCV000017050 SCV000037322 other HEMOGLOBIN HOPKINS 2 2016-07-20 no assertion criteria provided literature only
Natera, Inc. RCV001826475 SCV002093863 uncertain significance alpha Thalassemia 2021-02-05 no assertion criteria provided clinical testing

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