Submissions for variant NM_000278.5(PAX2):c.932C>T (p.Ala311Val)

gnomAD frequency: 0.00126  dbSNP: rs78738655

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085420	SCV001019685	likely benign	Renal coloboma syndrome; Focal segmental glomerulosclerosis 7	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000144385	SCV001986640	uncertain significance	not provided	2018-10-04	criteria provided, single submitter	clinical testing	Has been reported previously in an individual with retinal dystrophy (Carss et al., 2017); Has also been reported previously in an unaffected parent of a child anophthalmia but was not observed in the affected child (Gelb et al., 2001; Bower et al., 2012); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; In addition, in silico splice predictors suggest this variant may lead to abnormal gene splicing; This variant is associated with the following publications: (PMID: 11180607, 22213154, 28041643)
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000144385	SCV000189509	not provided	not provided		no assertion provided	not provided
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504921	SCV000599128	likely pathogenic	Retinal dystrophy	2015-01-01	no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV004544325	SCV004763555	benign	PAX2-related disorder	2021-04-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).