Submissions for variant NM_024306.5(FA2H):c.879C>T (p.Pro293=)

gnomAD frequency: 0.77852  dbSNP: rs2301865

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117012	SCV000151133	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000292801	SCV000398844	benign	Hereditary spastic paraplegia 35	2018-01-13	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.
GeneDx	RCV000117012	SCV000519324	benign	not specified	2016-01-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000292801	SCV000745163	benign	Hereditary spastic paraplegia 35	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510042	SCV001716974	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000292801	SCV001933918	benign	Hereditary spastic paraplegia 35	2021-08-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847685	SCV002104689	benign	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000117012	SCV005091837	benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 95% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 88. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004709261	SCV005252948	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000292801	SCV000733515	benign	Hereditary spastic paraplegia 35		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000292801	SCV000745826	benign	Hereditary spastic paraplegia 35	2015-07-24	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117012	SCV001954738	benign	not specified		no assertion criteria provided	clinical testing