ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.811T>C (p.Phe271Leu)

gnomAD frequency: 0.00001  dbSNP: rs375704974
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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 RCV001043470 SCV001207219 uncertain significance Kostmann syndrome 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 271 of the HAX1 protein (p.Phe271Leu). This variant is present in population databases (rs375704974, gnomAD 0.002%). 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: 841281). 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 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 RCV004629411 SCV005128488 uncertain significance Inborn genetic diseases 2024-11-20 criteria provided, single submitter clinical testing The p.F271L variant (also known as c.811T>C), located in coding exon 7 of the HAX1 gene, results from a T to C substitution at nucleotide position 811. The phenylalanine at codon 271 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001043470 SCV002086441 uncertain significance Kostmann syndrome 2021-06-07 no assertion criteria provided clinical testing

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