ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)

dbSNP: rs1422505598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001062057 SCV001190349 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing A Homozygous missense variation in exon 2 of the GALNS gene that results in the amino acid substitution of Arginine for Proline at codon 77 was detected. The observed variant c.230C>G (p.Pro77Arg) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.
Invitae RCV001062057 SCV001226829 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-08-28 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV001062057 SCV001547622 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation In vitro and vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; low to null in vitro enzymatic activity; PS3_strong); the prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_supporting); absent from gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting)
Genome-Nilou Lab RCV001062057 SCV002045038 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing

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