Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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, |
RCV001507452 | SCV001713031 | uncertain significance | not provided | 2019-06-17 | criteria provided, single submitter | clinical testing | |
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, |
RCV000807437 | SCV002085812 | uncertain significance | Kostmann syndrome | 2020-02-12 | no assertion criteria provided | clinical testing |