Submissions for variant NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)

gnomAD frequency: 0.00471  dbSNP: rs200816691

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247547	SCV000313947	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247547	SCV000338449	likely benign	not specified	2016-01-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086809	SCV000762692	benign	Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311396	SCV000846834	likely benign	Inborn genetic diseases	2016-06-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Athena Diagnostics	RCV000675908	SCV001143144	benign	not provided	2019-03-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000606118	SCV001257780	benign	Kufor-Rakeb syndrome	2017-08-08	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000675908	SCV001334596	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	ATP13A2: BP4, BP7, BS2
GeneDx	RCV000675908	SCV001884904	benign	not provided	2019-08-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20816920, 22743658)
Fulgent Genetics, Fulgent Genetics	RCV001086809	SCV002803736	likely benign	Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	2022-04-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675908	SCV005259459	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606118	SCV000733956	likely benign	Kufor-Rakeb syndrome		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675908	SCV000801635	likely benign	not provided	2017-08-15	no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000675908	SCV001965597	likely benign	not provided		no assertion criteria provided	clinical testing