ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1A>T (p.Met1Leu)

gnomAD frequency: 0.00001  dbSNP: rs771531650
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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 RCV002002426 SCV002228710 pathogenic Mucopolysaccharidosis, MPS-IV-A 2024-02-12 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GALNS mRNA. The next in-frame methionine is located at codon 22. This variant is present in population databases (rs771531650, gnomAD 0.005%). Disruption of the initiator codon has been observed in individual(s) with mucopolysaccharidosis IVA (PMID: 15241807). ClinVar contains an entry for this variant (Variation ID: 1453466). Studies have shown that disruption of the initiator codon alters GALNS gene expression (PMID: 15241807). For these reasons, this variant has been classified as Pathogenic.

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