ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)

dbSNP: rs774010006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377322 SCV001574628 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-11-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 90 of the SGSH protein (p.Gly90Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SGSH-related conditions (PMID: 21204211, 21455105, 24875751). ClinVar contains an entry for this variant (Variation ID: 1066348). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SGSH protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001377322 SCV005056730 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2024-03-03 criteria provided, single submitter clinical testing

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