ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) (rs1061361)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078326 SCV000110172 benign not specified 2013-09-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078326 SCV000302895 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357138 SCV000469757 benign Mucopolysaccharidosis type 7 2018-01-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078326 SCV000919479 benign not specified 2018-04-16 criteria provided, single submitter clinical testing Variant summary: GUSB c.1740C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 in silico splicing program predict no significant changes to the splicing site. The variant allele was found at a frequency of 0.13 in 277156 control chromosomes in the gnomAD database, including 2752 homozygotes. The observed variant frequency is approximately 120 fold of the estimated maximal expected allele frequency for a pathogenic variant in GUSB causing Mucopolysaccharidosis Type VI (Sly Syndrome) phenotype (0.0011), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.1740C>T in individuals affected with Mucopolysaccharidosis Type VI (Sly Syndrome) and no experimental evidence demonstrating its impact on protein function have been reported. Multiple clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar without evidence for independent evaluation, and classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000357138 SCV001719377 benign Mucopolysaccharidosis type 7 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000675830 SCV001881294 benign not provided 2019-03-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000357138 SCV001934061 benign Mucopolysaccharidosis type 7 2021-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675830 SCV000801553 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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