ClinVar Miner

Submissions for variant NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
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.
Invitae RCV003108080 SCV003782767 uncertain significance Borjeson-Forssman-Lehmann syndrome 2023-10-03 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.