ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)

dbSNP: rs118204435
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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 RCV000000733 SCV001547754 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation In vivo and in vitro 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); the prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_moderate); absent from gnomAD v2.1.1 (PM2_moderate); multiple lines of computational evidence suggest no impact on gene or gene product (BP4_supporting)
OMIM RCV000000733 SCV000020883 pathogenic Mucopolysaccharidosis, MPS-IV-A 1992-09-01 no assertion criteria provided literature only
GeneReviews RCV000000733 SCV001761895 not provided Mucopolysaccharidosis, MPS-IV-A no assertion provided literature only

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