ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.835C>T (p.Arg279Trp)

gnomAD frequency: 0.00005  dbSNP: rs780000169
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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 RCV001244318 SCV001417530 uncertain significance Kostmann syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 279 of the HAX1 protein (p.Arg279Trp). This variant is present in population databases (rs780000169, gnomAD 0.06%). 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: 969059). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004986998 SCV005596139 uncertain significance Inborn genetic diseases 2024-11-18 criteria provided, single submitter clinical testing The p.R279W variant (also known as c.835C>T), located in coding exon 7 of the HAX1 gene, results from a C to T substitution at nucleotide position 835. The arginine at codon 279 is replaced by tryptophan, an amino acid with dissimilar 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. RCV001244318 SCV002086444 uncertain significance Kostmann syndrome 2020-02-04 no assertion criteria provided clinical testing

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