ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)

dbSNP: rs72555390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671053 SCV000795993 pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-11-27 criteria provided, single submitter clinical testing
Invitae RCV001851520 SCV002242979 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2021-06-03 criteria provided, single submitter clinical testing Experimental studies have shown that this variant affects GLB1 protein function (PMID: 16617000). For these reasons, this variant has been classified as Pathogenic. 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 has been observed in individual(s) with GM1 gangliosidosis (PMID: 1907800). This variant is also known as c.186T>C. ClinVar contains an entry for this variant (Variation ID: 926). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 51 of the GLB1 protein (p.Ile51Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.
OMIM RCV000000974 SCV000021124 pathogenic GM1 gangliosidosis type 3 1992-03-01 no assertion criteria provided literature only
GeneReviews RCV001582457 SCV001821208 not provided Infantile GM1 gangliosidosis no assertion provided literature only High prevalence in Japan; associated with GM1 adult form

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