Submissions for variant NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)

dbSNP: rs1131692304

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000699145	SCV000827843	pathogenic	Aniridia 1; Irido-corneo-trabecular dysgenesis	2018-01-22	criteria provided, single submitter	clinical testing	Loss-of-function variants in PAX6 are known to be pathogenic (PMID: 12634864). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This sequence change creates a premature translational stop signal (p.Gln135*) in the PAX6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with aniridia (PMID: 28321846, 9482572). This variant is also known as c.765C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 430994).
Institute of Human Genetics, University of Leipzig Medical Center	RCV000496038	SCV003804724	pathogenic	Aniridia 1	2023-01-24	criteria provided, single submitter	clinical testing	_x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	RCV000496038	SCV000584146	pathogenic	Aniridia 1		no assertion criteria provided	research