ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.799T>A (p.Phe267Ile)

dbSNP: rs778188247
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
Invitae RCV000814729 SCV000955151 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2018-07-08 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with POMGNT2-related disease. This variant is present in population databases (rs778188247, ExAC 0.009%). This sequence change replaces phenylalanine with isoleucine at codon 267 of the POMGNT2 protein (p.Phe267Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine.
GeneDx RCV002290460 SCV002578264 likely pathogenic not provided 2022-06-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)

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.