ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) (rs9530)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078327 SCV000110173 benign not specified 2013-10-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078327 SCV000302896 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394365 SCV000469755 benign Mucopolysaccharidosis type 7 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000078327 SCV000539264 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 58% of total chromosomes in ExAC
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078327 SCV000919480 benign not specified 2018-04-16 criteria provided, single submitter clinical testing Variant summary: GUSB c.1946T>C (p.Leu649Pro) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.58 in 276996 control chromosomes, suggesting that it is the major allele and therefore benign. To our knowledge, no occurrence of c.1946T>C in individuals affected with Mucopolysaccharidosis Type VI (Sly Syndrome) and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000394365 SCV001732007 benign Mucopolysaccharidosis type 7 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000675829 SCV001891996 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000394365 SCV001934060 benign Mucopolysaccharidosis type 7 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675829 SCV000801552 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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