Submissions for variant NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)

gnomAD frequency: 0.01203  dbSNP: rs56367069

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116445	SCV000150370	benign	not specified	2013-08-16	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116445	SCV000225063	benign	not specified	2015-01-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116445	SCV000313960	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555414	SCV000640203	benign	Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000675905	SCV000841010	benign	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312035	SCV000846546	benign	Inborn genetic diseases	2016-04-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Illumina Laboratory Services, Illumina	RCV001099191	SCV001255621	likely benign	Kufor-Rakeb syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000675905	SCV001832223	benign	not provided	2019-10-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27294386, 19705361, 22743658, 22995991)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000116445	SCV002051006	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675905	SCV002496462	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ATP13A2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000675905	SCV005259382	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675905	SCV000801632	uncertain significance	not provided	2017-11-13	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675905	SCV001799294	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000675905	SCV001808482	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000675905	SCV001972657	likely benign	not provided		no assertion criteria provided	clinical testing