Submissions for variant NM_003124.5(SPR):c.112G>A (p.Val38Ile)

gnomAD frequency: 0.00535  dbSNP: rs146099322

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001085878	SCV000287887	likely benign	Dystonic disorder	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000403050	SCV000339102	benign	not specified	2016-02-13	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000422213	SCV000511749	likely benign	not provided	2016-06-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000422213	SCV000608947	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	SPR: BS2
GeneDx	RCV000422213	SCV000730089	benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25957637)
Illumina Laboratory Services, Illumina	RCV001142954	SCV001303448	benign	Dopa-responsive dystonia due to sepiapterin reductase deficiency	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.
Department of Neurology, Xijing Hospital, Fourth Military Medical University	RCV001142954	SCV002553222	uncertain significance	Dopa-responsive dystonia due to sepiapterin reductase deficiency	2022-03-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003919953	SCV004729830	benign	SPR-related disorder	2019-09-12	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).