Submissions for variant NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=)

gnomAD frequency: 0.40860  dbSNP: rs3170740

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116444	SCV000150369	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116444	SCV000313959	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116444	SCV000331356	benign	not specified	2016-02-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000336632	SCV000351356	benign	Kufor-Rakeb syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000675885	SCV000841007	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312034	SCV000845981	benign	Inborn genetic diseases	2016-01-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511873	SCV001719188	benign	Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000336632	SCV001775310	benign	Kufor-Rakeb syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554134	SCV001775311	benign	Autosomal recessive spastic paraplegia type 78	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000675885	SCV001936674	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000116444	SCV005087419	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 72% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 67. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000675885	SCV005285483	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000336632	SCV000733949	benign	Kufor-Rakeb syndrome		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675885	SCV000801611	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000116444	SCV001807711	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116444	SCV001956588	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116444	SCV001970868	benign	not specified		no assertion criteria provided	clinical testing