ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)

dbSNP: rs398123440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179764 SCV000232067 likely pathogenic not provided 2013-01-30 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001578303 SCV001547773 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research The prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_strong); very low frequency in gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting)
CeGaT Center for Human Genetics Tuebingen RCV000179764 SCV002498201 likely pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing
Invitae RCV001578303 SCV003518821 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-03-18 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 93184). This missense change has been observed in individual(s) with clinical features of mucopolysaccharidosis IVA (PMID: 24726177, 32993725, 34387910). This variant is present in population databases (rs398123440, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 235 of the GALNS protein (p.Thr235Lys).

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