ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)

gnomAD frequency: 0.00004  dbSNP: rs760260706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001501342 SCV001706150 likely benign Mucopolysaccharidosis, MPS-IV-A 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV003227978 SCV003924586 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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