ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)

gnomAD frequency: 0.00002  dbSNP: rs780614125
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807437 SCV000947490 uncertain significance Kostmann syndrome 2018-07-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 4 of the HAX1 protein (p.Phe4Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs780614125, ExAC 0.01%). This variant has not been reported in the literature in individuals with HAX1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507452 SCV001713031 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000807437 SCV002789789 uncertain significance Kostmann syndrome 2022-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972980 SCV005596171 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The p.F4S variant (also known as c.11T>C), located in coding exon 1 of the HAX1 gene, results from a T to C substitution at nucleotide position 11. The phenylalanine at codon 4 is replaced by serine, an amino acid with highly dissimilar 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. RCV000807437 SCV002085812 uncertain significance Kostmann syndrome 2020-02-12 no assertion criteria provided clinical testing

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