ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1367G>A (p.Arg456His) (rs7503034)

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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 RCV000078352 SCV000110198 benign not specified 2013-12-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078352 SCV000302953 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625403 SCV000407340 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588276 SCV000695956 benign not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The SGSH c.1367G>A (p.Arg456His) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant. This variant was found in 42217/117544 control chromosomes (including 7750 homozygotes) at a frequency of 0.3591591, which is approximately 111 times the estimated maximal expected allele frequency of a pathogenic SGSH variant (0.0032275), suggesting this variant is a common benign polymorphism. In addition, clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, this variant is classified as Benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625403 SCV000745245 benign Mucopolysaccharidosis, MPS-III-A 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000625403 SCV001722643 benign Mucopolysaccharidosis, MPS-III-A 2020-12-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000588276 SCV000801892 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000625403 SCV001463870 benign Mucopolysaccharidosis, MPS-III-A 2020-09-16 no assertion criteria provided clinical testing

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