ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)

dbSNP: rs891298440
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Total submissions: 4
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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 RCV000677611 SCV000803128 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); Very low frequency in ExAC (PM2)
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000677611 SCV002822857 pathogenic Mucopolysaccharidosis type 6 2023-01-16 criteria provided, single submitter clinical testing A Homozygous missense variation in exon 5 of the PIGA gene that results in the termination of amino acid chain at codon 315 was detected. The observed variant c.943C>T (p.Arg315Ter) has not been reported in the 1000 genomes and has MAF of 0.0004% in the gnomAD database. The in silico prediction of the variant are possibly damaging by CADD, DANN, LRT and MutationTaster2. In summary, the variant meets our criteria to be classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000677611 SCV003525877 pathogenic Mucopolysaccharidosis type 6 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg315*) in the ARSB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 20143913, 24875751). ClinVar contains an entry for this variant (Variation ID: 559828). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000677611 SCV004209825 pathogenic Mucopolysaccharidosis type 6 2024-01-24 criteria provided, single submitter clinical testing

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