Submissions for variant NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)

gnomAD frequency: 0.00324  dbSNP: rs56351817

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244521	SCV000313949	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001084457	SCV000640186	benign	Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311397	SCV000846270	likely benign	Inborn genetic diseases	2016-02-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Athena Diagnostics Inc	RCV000557867	SCV001143145	benign	not provided	2018-08-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000602353	SCV001253609	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000557867	SCV001502501	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ATP13A2: BP4, BP7, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602353	SCV000733953	likely benign	Kufor-Rakeb syndrome		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000557867	SCV001972217	likely benign	not provided		no assertion criteria provided	clinical testing