ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.193T>G (p.Phe65Val)

gnomAD frequency: 0.00001  dbSNP: rs1648509630
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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 RCV001236430 SCV001409153 uncertain significance Kostmann syndrome 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 65 of the HAX1 protein (p.Phe65Val). This variant is not present in population databases (gnomAD no frequency). 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: 962553). 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.
Ambry Genetics RCV004978176 SCV005596163 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The p.F65V variant (also known as c.193T>G), located in coding exon 2 of the HAX1 gene, results from a T to G substitution at nucleotide position 193. The phenylalanine at codon 65 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001236430 SCV002085823 uncertain significance Kostmann syndrome 2020-09-04 no assertion criteria provided clinical testing

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