ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.681C>T (p.Phe227=)

gnomAD frequency: 0.00001  dbSNP: rs780608544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001502767 SCV001707604 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533905 SCV004733429 likely benign GLB1-related disorder 2019-05-14 criteria provided, single submitter 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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