ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)

dbSNP: rs1402584432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660544 SCV000782650 uncertain significance Mucopolysaccharidosis type 6 2017-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000660544 SCV002814421 uncertain significance Mucopolysaccharidosis type 6 2021-08-01 criteria provided, single submitter clinical testing
Invitae RCV000660544 SCV004293556 likely pathogenic Mucopolysaccharidosis type 6 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 310 of the ARSB protein (p.Asn310Asp). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with ARSB-related conditions (PMID: 28831385). ClinVar contains an entry for this variant (Variation ID: 547955). 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 with a positive predictive value of 95%. 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.

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