ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1483-15A>G

gnomAD frequency: 0.00001  dbSNP: rs1461992033
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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 RCV001578436 SCV001547979 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Absent from gnomAD v2.1.1 (PM2_moderate)
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001578436 SCV002104178 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter research The patients blood mRNA analysis demonstrated the alteration of splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV001578436 SCV002311680 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-12-07 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the GALNS gene. It does not directly change the encoded amino acid sequence of the GALNS protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has been observed in individual(s) with mucopolysaccharidosis type IVA (PMID: 34387910; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1048334). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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