ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.899-2A>G (rs1165218506)

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Total submissions: 2
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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 RCV000781398 SCV000919395 likely pathogenic Morquio syndrome 2017-12-05 criteria provided, single submitter clinical testing Variant summary: The GALNS c.899-2A>G variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict the complete loss of a cannonical splice acceptor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 243962 control chromosomes (gnomAD). The variant has been reported in one affected individual in the literature (Tomatsu_2004), and has been cited by a clinical lab with a classification of "pathogenic". Taken together, this variant is classified as likely pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV001578586 SCV001547829 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Splicing variant in canonical site (PVS1_very strong); absent from gnomAD v2.1.1 (PM2_moderate)

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