ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)

gnomAD frequency: 0.00018  dbSNP: rs200050465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430040 SCV001632764 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2025-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533719 SCV004120503 uncertain significance GLB1-related disorder 2022-10-26 criteria provided, single submitter clinical testing The GLB1 c.782A>G variant is predicted to result in the amino acid substitution p.Lys261Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.058% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-33094993-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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