ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) (rs398123246)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000078358 SCV000110204 uncertain significance not provided 2013-01-23 criteria provided, single submitter clinical testing
Counsyl RCV000671585 SCV000796573 uncertain significance Mucopolysaccharidosis, MPS-III-A 2017-12-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000671585 SCV000914803 uncertain significance Mucopolysaccharidosis, MPS-III-A 2018-03-19 criteria provided, single submitter clinical testing The SGSH c.97G>A (p.Gly33Arg) variant has been reported in a homozygous state in one patient, who was noted to have increased heparin sulfate in urine (Pollard et al. 2013). This variant is reported at a frequency of 0.000089 in the South Asian population from the Exome Aggregation Consortium; however this is based on one allele only so the variant is presumed to be rare. Based on the evidence, the p.Gly33Arg variant is classified as a variatn of unknown significance but suspicious for pathogenicity for mucopolysaccharidosis type III. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000671585 SCV001571714 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2021-02-12 criteria provided, single submitter clinical testing A homozygous missense variant in exon 2 of the SGSH gene that results in the amino acid substitution of Arginine for Glycine at codon 33 was detected. The observed variant c.97G>A (p.Gly33Arg) has not been reported in the 1000 genomes and has a MAF of 0.001% in gnomAD databases. The in silico prediction of the variant is damaging by MutationTaster2. In summary, the variant meets our criteria to be classified as pathogenic.
Nilou-Genome Lab RCV000671585 SCV002045109 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter 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.