Submissions for variant NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)

gnomAD frequency: 0.00042  dbSNP: rs184878897

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000875290	SCV001017595	benign	Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	2025-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001100993	SCV001257548	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). 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.
GeneDx	RCV001576065	SCV001803177	likely benign	not provided	2020-12-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002320045	SCV002608843	benign	Inborn genetic diseases	2017-08-30	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.
Fulgent Genetics, Fulgent Genetics	RCV000875290	SCV002812487	likely benign	Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	2021-10-26	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001576065	SCV002034930	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001576065	SCV002038101	likely benign	not provided		no assertion criteria provided	clinical testing