Submissions for variant NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)

gnomAD frequency: 0.00001  dbSNP: rs745809543

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000804320	SCV000944224	likely benign	Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome	2023-07-07	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV000804320	SCV002512743	uncertain significance	Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome	2022-02-17	criteria provided, single submitter	clinical testing	ACMG classification criteria: BP4 supporting
PreventionGenetics, part of Exact Sciences	RCV004733048	SCV005348917	uncertain significance	GLI3-related disorder	2024-08-07	no assertion criteria provided	clinical testing	The GLI3 c.1346G>A variant is predicted to result in the amino acid substitution p.Arg449Gln. This variant was reported as a variant of uncertain significance in an individual with pituitary stalk interruption syndrome (Brauner et al 2020. PubMed ID: 33270637). This variant is reported in 0.0085% of alleles in individuals of European (non-Finnish) descent in gnomAD. Although we suspect this variant is benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.