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

gnomAD frequency: 0.31021  dbSNP: rs7503034

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078352	SCV000110198	benign	not specified	2013-12-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078352	SCV000302953	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, 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	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000588276	SCV001833387	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625403	SCV002045511	benign	Mucopolysaccharidosis, MPS-III-A	2021-11-07	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
Clinical Genetics, Academic Medical Center	RCV000078352	SCV001918935	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078352	SCV002037341	benign	not specified		no assertion criteria provided	clinical testing