ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1159G>A (p.Val387Met)

dbSNP: rs62620232
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078351 SCV000110197 benign not specified 2013-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078351 SCV000302951 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078351 SCV000729986 benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000676149 SCV001135113 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123039 SCV001281836 benign Mucopolysaccharidosis, MPS-III-A 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001123039 SCV001724341 benign Mucopolysaccharidosis, MPS-III-A 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001123039 SCV002045513 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078351 SCV002050866 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676149 SCV004010578 benign not provided 2024-05-01 criteria provided, single submitter clinical testing SGSH: PM5, BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000676149 SCV005214259 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676149 SCV000801896 benign not provided 2017-09-27 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000676149 SCV001798531 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000676149 SCV001923371 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001123039 SCV002095119 likely benign Mucopolysaccharidosis, MPS-III-A 2019-11-12 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.