ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)

dbSNP: rs749989641
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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 RCV000677610 SCV000803127 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677610 SCV003525729 pathogenic Mucopolysaccharidosis type 6 2022-07-18 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with mucolipidosis VI (PMID: 17458871). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro313 amino acid residue in ARSB. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17458871, 17643332, 23557332, 27826022). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 559827). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 313 of the ARSB protein (p.Pro313Ser).
Baylor Genetics RCV000677610 SCV005055579 likely pathogenic Mucopolysaccharidosis type 6 2024-01-28 criteria provided, single submitter clinical testing

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