ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.736G>C (p.Asp246His)

gnomAD frequency: 0.00001  dbSNP: rs375477111
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963931 SCV002254679 uncertain significance Kostmann syndrome 2022-01-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 246 of the HAX1 protein (p.Asp246His). This variant is present in population databases (rs375477111, gnomAD 0.005%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine 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.

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