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 2020-07-31 criteria provided, single submitter clinical testing The HBA1 c.337C>G; p.His113Asp variant (rs34830032), also known as Hb Hopkins-II, is reported in the literature without clinical information, and is reported in the HbVar database (see 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. The histidine at codon 113 is highly conserved, and computational analyses (SIFT, PolyPhen-2) give low confidence predictions of this variant on protein structure/function. Due to limited information, the clinical significance of the Hb Hopkins-II variant is uncertain at this time. REFERENCES Link to HbVar for Hb Hopkins-II:
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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