ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser)

dbSNP: rs1553917753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533179 SCV000627148 uncertain significance Mucopolysaccharidosis type 1 2017-07-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IDUA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 630 of the IDUA protein (p.Gly630Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine.

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