ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) (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 likely pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 346 of the GLB1 protein (p.Lys346Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with GM1-gangliosidosis (PMID: 16941474, 24777551, 19472408). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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