ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.820C>T (p.Arg274Cys)

dbSNP: rs753078666
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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 RCV001235349 SCV001408030 uncertain significance Kostmann syndrome 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 274 of the HAX1 protein (p.Arg274Cys). This variant is present in population databases (rs753078666, gnomAD 0.003%). 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: 961625). 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.
Natera, Inc. RCV001235349 SCV002086443 uncertain significance Kostmann syndrome 2020-12-29 no assertion criteria provided clinical testing

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