ClinVar Miner

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

gnomAD frequency: 0.00535  dbSNP: rs146099322
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Total submissions: 8
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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 2024-03-01 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).

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