Submissions for variant NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)

gnomAD frequency: 0.00088  dbSNP: rs147044066

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000352249	SCV000333685	uncertain significance	not provided	2015-08-07	criteria provided, single submitter	clinical testing
Invitae	RCV001088105	SCV001012989	likely benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001134196	SCV001293929	benign	Holoprosencephaly 9	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000352249	SCV001871465	benign	not provided	2020-09-30	criteria provided, single submitter	clinical testing	Identified in a patient with combined pituitary hormone deficiency (CPHD) without holoprosencephaly in published literature (Franca et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22967285, 24744436)
Ambry Genetics	RCV002521879	SCV003732131	likely benign	Inborn genetic diseases	2021-12-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity	RCV000352249	SCV003816879	uncertain significance	not provided	2023-02-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000352249	SCV004149095	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	GLI2: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003930061	SCV004742116	likely benign	GLI2-related condition	2020-09-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000352249	SCV001979232	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000352249	SCV001980401	likely benign	not provided		no assertion criteria provided	clinical testing