ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)

gnomAD frequency: 0.00001  dbSNP: rs767131589
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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 RCV001358675 SCV001547875 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Nonsense 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)
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001358675 SCV001554472 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-04-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001358675 SCV002045003 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing

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