Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002403834 | SCV002708384 | uncertain significance | Inborn genetic diseases | 2023-03-20 | criteria provided, single submitter | clinical testing | The c.1052A>G (p.E351G) alteration is located in exon 10 (coding exon 9) of the PHF6 gene. This alteration results from a A to G substitution at nucleotide position 1052, causing the glutamic acid (E) at amino acid position 351 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003108080 | SCV003782767 | uncertain significance | Borjeson-Forssman-Lehmann syndrome | 2024-07-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 351 of the PHF6 protein (p.Glu351Gly). This variant is present in population databases (rs762116442, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PHF6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1777495). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |