ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.998G>A (p.Gly333Asp)

dbSNP: rs1911555382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio De Medicina Genomica, Universidad Icesi RCV004586513 SCV005073965 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2024-07-08 criteria provided, single submitter clinical testing The Gly333Asp variant in GALNS has been reported in two Colombian brothers with clinical characteristics of severe Morquio syndrome (MPS IVA).

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