ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)

gnomAD frequency: 0.00007  dbSNP: rs139205111
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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 RCV000813212 SCV000953558 uncertain significance Kostmann syndrome 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 54 of the HAX1 protein (p.Pro54Ala). This variant is present in population databases (rs139205111, gnomAD 0.04%). 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: 656724). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV002538154 SCV003752792 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The p.P54A variant (also known as c.160C>G), located in coding exon 2 of the HAX1 gene, results from a C to G substitution at nucleotide position 160. The proline at codon 54 is replaced by alanine, 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. RCV000813212 SCV001455153 likely benign Kostmann syndrome 2020-05-02 no assertion criteria provided clinical testing

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