ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.339G>C (p.Glu113Asp)

gnomAD frequency: 0.00004  dbSNP: rs367673863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820208 SCV000960909 uncertain significance Kostmann syndrome 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 113 of the HAX1 protein (p.Glu113Asp). This variant is present in population databases (rs367673863, gnomAD 0.01%). 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: 662545). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt HAX1 protein function with a negative predictive value of 80%. 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 RCV004973012 SCV005596190 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The p.E113D variant (also known as c.339G>C), located in coding exon 3 of the HAX1 gene, results from a G to C substitution at nucleotide position 339. The glutamic acid at codon 113 is replaced by aspartic acid, 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. RCV000820208 SCV002085826 uncertain significance Kostmann syndrome 2020-03-25 no assertion criteria provided clinical testing

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