ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) (rs118204449)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193132 SCV001361769 pathogenic Morquio syndrome 2019-03-18 criteria provided, single submitter clinical testing Variant summary: GALNS c.689G>A (p.Trp230X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 246200 control chromosomes (gnomAD). c.689G>A has been reported in the literature in two siblings affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A)(Montano_2003). These data indicate that the variant may be associated with disease. A functional study, Montano_2003, showed the variant to have no detectable activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000000746 SCV001547769 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Nonsense variant (PVS1_very strong); in vitro and in 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_moderate); absent from gnomAD v2.1.1 (PM2_moderate)
OMIM RCV000000746 SCV000020896 pathogenic Mucopolysaccharidosis, MPS-IV-A 2003-07-01 no assertion criteria provided literature only

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