ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)

gnomAD frequency: 0.00005  dbSNP: rs748345527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373808 SCV001570540 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-09-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 36 of the GLB1 protein (p.Tyr36Cys). This variant is present in population databases (rs748345527, gnomAD 0.03%). This missense change has been observed in individual(s) with GM1 gangliosidosis (PMID: 26646981). ClinVar contains an entry for this variant (Variation ID: 1063917). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GLB1 protein function. This variant disrupts the p.Tyr36 amino acid residue in GLB1. Other variant(s) that disrupt this residue have been observed in individuals with GLB1-related conditions (PMID: 23046582), which suggests that this may be a clinically significant amino acid residue.

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