ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)

dbSNP: rs2143001380
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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 RCV001578312 SCV001547782 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Absent from gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting)
Labcorp Genetics (formerly Invitae), Labcorp RCV001578312 SCV004297073 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1048208). For these reasons, this variant has been classified as 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. This missense change has been observed in individual(s) with mucopolysaccharidosis IVA (PMID: 23227063, 23401410). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 242 of the GALNS protein (p.Ser242Cys).

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