ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.720C>G (p.His240Gln)

dbSNP: rs1715096917
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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 RCV001309288 SCV001498783 uncertain significance Mucopolysaccharidosis type 1 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 240 of the IDUA protein (p.His240Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with deficient alpha-L-iduronidase enzyme activity in leukocytes (PMID: 28728811). 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 C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts the p.His240 amino acid residue in IDUA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11735025, 22976768, 31194252). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Revvity Omics, Revvity RCV003490179 SCV004235778 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing

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