ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.289G>T (p.Ala97Ser)

dbSNP: rs1684869052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298515 SCV001487574 uncertain significance Kostmann syndrome 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 97 of the HAX1 protein (p.Ala97Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HAX1-related conditions. 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.
Natera, Inc. RCV001298515 SCV002085825 uncertain significance Kostmann syndrome 2020-03-20 no assertion criteria provided clinical testing

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