ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter)

dbSNP: rs761455237
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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 RCV001578602 SCV001547897 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Nonsense variant (PVS1_very strong); in vitro functional studies supportive of a damaging effect on the gene product (RNA studies; PS3_supporting); absent from gnomAD v2.1.1 (PM2_moderate)
Fulgent Genetics, Fulgent Genetics RCV001578602 SCV005641467 pathogenic Mucopolysaccharidosis, MPS-IV-A 2024-06-03 criteria provided, single submitter clinical testing

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