Submissions for variant NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr)

gnomAD frequency: 0.00005  dbSNP: rs199887024

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001136005	SCV001295823	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	RCV001759898	SCV001986125	uncertain significance	not provided	2019-08-13	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16327884, 22978696, 31386309)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002558293	SCV003013577	likely benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-10-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945853	SCV004765720	likely benign	GLI2-related disorder	2023-08-29	no assertion criteria provided	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).