ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)

dbSNP: rs121918178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000000947 SCV002309114 uncertain significance Mucopolysaccharidosis type 7 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 495 of the GUSB protein (p.Tyr495Cys). This variant is present in population databases (rs121918178, gnomAD 0.0009%). This missense change has been observed in individual(s) with mucopolysaccharidosis type VII (PMID: 7633414). ClinVar contains an entry for this variant (Variation ID: 899). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects GUSB function (PMID: 7633414). 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.
OMIM RCV000000947 SCV000021097 pathogenic Mucopolysaccharidosis type 7 1995-04-01 no assertion criteria provided literature only

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