ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)

dbSNP: rs749980306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665726 SCV000789892 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000821368 SCV000962123 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-09-26 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 346 of the GLB1 protein (p.Lys346Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with GM1-gangliosidosis (PMID: 16941474, 19472408, 24777551). ClinVar contains an entry for this variant (Variation ID: 550856). 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. For these reasons, this variant has been classified as Pathogenic.

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