Submissions for variant NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer)

dbSNP: rs767704163

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001008739	SCV001168520	pathogenic	not provided	2019-01-22	criteria provided, single submitter	clinical testing	The c.881_882delAT variant causes a frameshift starting with codon Tyrosine 294 and changes this amino acid to a premature Stop codon, denoted p.Tyr294Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, c.881_882delAT is considered to be a pathogenic variant.
Invitae	RCV001224593	SCV001396801	pathogenic	Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis	2024-01-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr294*) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). This variant is present in population databases (rs767704163, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with GLB1-related condition (PMID: 30555092). ClinVar contains an entry for this variant (Variation ID: 817580). For these reasons, this variant has been classified as Pathogenic.
Centogene AG - the Rare Disease Company	RCV001250223	SCV001424428	pathogenic	GM1 gangliosidosis		criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001008739	SCV003826438	pathogenic	not provided	2022-07-26	criteria provided, single submitter	clinical testing