ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)

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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 RCV003090271 SCV003479431 uncertain significance Mucopolysaccharidosis type 1 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 60 of the IDUA protein (p.Gln60Arg). This variant is present in population databases (rs773238336, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IDUA protein function. 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.
Ambry Genetics RCV003340627 SCV004060061 uncertain significance Inborn genetic diseases 2023-07-19 criteria provided, single submitter clinical testing The c.179A>G (p.Q60R) alteration is located in exon 2 (coding exon 2) of the IDUA gene. This alteration results from a A to G substitution at nucleotide position 179, causing the glutamine (Q) at amino acid position 60 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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