ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.168C>A (p.His56Gln)

gnomAD frequency: 0.00002  dbSNP: rs756371972
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233971 SCV001406592 uncertain significance Kostmann syndrome 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 56 of the HAX1 protein (p.His56Gln). This variant is present in population databases (rs756371972, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 960445). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004978168 SCV005596129 uncertain significance Inborn genetic diseases 2024-10-02 criteria provided, single submitter clinical testing The p.H56Q variant (also known as c.168C>A), located in coding exon 2 of the HAX1 gene, results from a C to A substitution at nucleotide position 168. The histidine at codon 56 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001233971 SCV002085821 uncertain significance Kostmann syndrome 2020-08-18 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.