ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)

gnomAD frequency: 0.00001  dbSNP: rs786205673
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000170584 SCV000222680 likely pathogenic Non-immune hydrops fetalis 2014-12-29 criteria provided, single submitter research
Invitae RCV001283824 SCV002981450 uncertain significance Mucopolysaccharidosis type 7 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 103 of the GUSB protein (p.Arg103Trp). This variant is present in population databases (rs786205673, gnomAD 0.007%). This missense change has been observed in individual(s) with non-immune hydrops (PMID: 31130284). ClinVar contains an entry for this variant (Variation ID: 190463). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001283824 SCV004801129 likely pathogenic Mucopolysaccharidosis type 7 2024-02-11 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283824 SCV001469237 pathogenic Mucopolysaccharidosis type 7 2020-09-10 no assertion criteria provided clinical testing

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