ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1383C>A (p.Tyr461Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005126012 SCV005752775 pathogenic Mucopolysaccharidosis, MPS-IV-A 2024-05-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr461*) in the GALNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALNS are known to be pathogenic (PMID: 12442278). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALNS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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