ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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.

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