ClinVar Miner

Submissions for variant NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys)

gnomAD frequency: 0.00013  dbSNP: rs143914758
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559788 SCV000655233 uncertain significance Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 1400 of the GLI2 protein (p.Gly1400Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs143914758, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals affected with GLI2-related conditions. 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: "Possibly Damaging"; 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.
Eurofins Ntd Llc (ga) RCV000592191 SCV000704925 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000592191 SCV001152395 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001131582 SCV001291213 likely benign Holoprosencephaly 9 2017-09-14 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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.