ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) (rs72555368)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673423 SCV000798624 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-03-21 criteria provided, single submitter clinical testing
Invitae RCV001040694 SCV001204283 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2019-02-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 500 of the GLB1 protein (p.Thr500Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs72555368, ExAC 0.002%). This variant has been observed in many individuals affected with Morquio B disease or GM1 gangliosidosis (PMID: 12393180, 17664528, 19472408, 26108645). ClinVar contains an entry for this variant (Variation ID: 942). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000991 SCV000021141 pathogenic Mucopolysaccharidosis, MPS-IV-B 2001-08-01 no assertion criteria provided literature only

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