Submissions for variant NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=)

gnomAD frequency: 0.00101  dbSNP: rs151090814

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000374740	SCV000416238	benign	Holoprosencephaly 9	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000501256	SCV000594984	likely benign	not specified	2016-04-15	criteria provided, single submitter	clinical testing
Invitae	RCV002521280	SCV001013110	benign	Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	2024-01-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922414	SCV004740914	likely benign	GLI2-related condition	2019-10-10	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).