ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.950G>A (p.Gly317Glu)

dbSNP: rs2142999169
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Total submissions: 2
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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 RCV001578411 SCV001547855 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Absent from gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800986 SCV005422187 likely pathogenic Morquio syndrome 2024-10-23 criteria provided, single submitter clinical testing Variant summary: GALNS c.950G>A (p.Gly317Glu) results in a non-conservative amino acid change located in the Sulfatase, N-terminal domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250648 control chromosomes. c.950G>A has been reported in the literature in individuals affected with Mucopolysaccharidosis Type IVA (Morquio Syndrome A) (examples: Caciotti_2015 and Leong_2019). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Different variant affecting this residue has been classified Pathogenic in ClinVar (c.949G>C (p.Gly317Arg) Variation ID: 1048310). ClinVar contains an entry for this variant (Variation ID: 1048311). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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