ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.707T>C (p.Leu236Pro)

dbSNP: rs118203940
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Total submissions: 3
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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 RCV000677586 SCV000803103 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2); Reputable source identifies as pathogenic (PP5)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677586 SCV001586726 pathogenic Mucopolysaccharidosis type 6 2023-07-25 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 ARSB protein function. ClinVar contains an entry for this variant (Variation ID: 879). This missense change has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 1550123, 14974081). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 236 of the ARSB protein (p.Leu236Pro).
OMIM RCV000000927 SCV000021077 pathogenic Mucopolysaccharidosis, type vi, mild 1992-04-01 no assertion criteria provided literature only

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