ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.102T>G (p.Asp34Glu)

gnomAD frequency: 0.00008  dbSNP: rs141512965
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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 RCV001247519 SCV001420946 uncertain significance Kostmann syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 34 of the HAX1 protein (p.Asp34Glu). This variant is present in population databases (rs141512965, gnomAD 0.02%). 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: 971685). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HAX1 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.
Natera, Inc. RCV001247519 SCV002085815 uncertain significance Kostmann syndrome 2020-02-13 no assertion criteria provided clinical testing

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