Submissions for variant NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)

gnomAD frequency: 0.02009  dbSNP: rs35798522

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116456	SCV000167122	benign	not specified	2012-05-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000526186	SCV000640012	benign	Syndromic X-linked intellectual disability Hedera type	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316295	SCV000851826	benign	Inborn genetic diseases	2015-07-16	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago	RCV000116456	SCV000150383	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573711	SCV001799987	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116456	SCV001930043	benign	not specified		no assertion criteria provided	clinical testing