ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)

gnomAD frequency: 0.00001  dbSNP: rs398123439
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790674 SCV000230937 pathogenic not provided 2013-05-14 criteria provided, single submitter clinical testing
Invitae RCV000178782 SCV000825972 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 93179). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis IVA (PMID: 23876334). This variant is present in population databases (rs398123439, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp159*) 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).
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000178782 SCV001547710 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Nonsense variant (PVS1_very strong); in vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_supporting); the prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_strong); very low frequency in gnomAD v2.1.1 (PM2_moderate)
Revvity Omics, Revvity RCV000178782 SCV002024148 pathogenic Mucopolysaccharidosis, MPS-IV-A 2022-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000178782 SCV002045024 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000178782 SCV002814701 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-08-06 criteria provided, single submitter clinical testing

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