ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.198G>A (p.Pro66=) (rs1147096)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079972 SCV000111863 benign not specified 2014-06-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079972 SCV000308697 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000616982 SCV000380845 benign Mucopolysaccharidosis, MPS-III-D 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.
Integrated Genetics/Laboratory Corporation of America RCV000589399 SCV000697909 benign not provided 2016-12-04 criteria provided, single submitter clinical testing Variant summary: The c.198G>A (p.Pro66=) in GNS gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at a frequency of 0.0655 (75159/114750 chrs tested), indicating that it is an ancestral allele. The observed frequency exceeds the maximum expected allele frequency for a pathogenic GNS variant of 0.0011 suggesting that it is a benign polymorphism. The variant of interest has been reported as Benign by a reputable database/clinical laboratory. Taking together, based on the prevalence in general population the variant was classified as Benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616982 SCV000744952 benign Mucopolysaccharidosis, MPS-III-D 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616982 SCV000733185 benign Mucopolysaccharidosis, MPS-III-D no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000589399 SCV000801374 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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