ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.651_652insG (p.Lys218fs)

gnomAD frequency: 0.00002  dbSNP: rs1468285336
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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 RCV001578572 SCV001547762 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Frameshift variant (PVS1_very strong); the prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_moderate); very low frequency in gnomAD v2.1.1 (PM2_moderate)
Labcorp Genetics (formerly Invitae), Labcorp RCV001578572 SCV004557584 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys218Glufs*45) in the GALNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALNS are known to be pathogenic (PMID: 12442278). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type IVA (PMID: 34387910). ClinVar contains an entry for this variant (Variation ID: 1048470). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001578572 SCV005641491 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2024-01-05 criteria provided, single submitter clinical testing

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