ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)

gnomAD frequency: 0.00001  dbSNP: rs1427663367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001578518 SCV001547749 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Absent from gnomAD v2.1.1 (PM2_moderate)
Labcorp Genetics (formerly Invitae), Labcorp RCV001578518 SCV004447139 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-09-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALNS protein function. ClinVar contains an entry for this variant (Variation ID: 1048415). This missense change has been observed in individual(s) with mucopolysaccharidosis type IVA (PMID: 34387910). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 193 of the GALNS protein (p.Glu193Gly).

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