ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1046del (p.Ser349fs)

dbSNP: rs2142995845
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Total submissions: 1
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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 RCV001578592 SCV001547885 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Frameshift variant (PVS1_very strong); absent from gnomAD v2.1.1 (PM2_moderate)

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