ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1374C>T (p.Ser458=)

gnomAD frequency: 0.00003  dbSNP: rs534204869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909559 SCV001054371 likely benign Mucopolysaccharidosis, MPS-IV-A 2023-10-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704307 SCV005219613 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003895540 SCV004716733 likely benign GALNS-related disorder 2021-12-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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