ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)

gnomAD frequency: 0.00008  dbSNP: rs199554923
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243859 SCV001417045 uncertain significance Mucopolysaccharidosis type 1 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 55 of the IDUA protein (p.Pro55Leu). This variant is present in population databases (rs199554923, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. ClinVar contains an entry for this variant (Variation ID: 968667). 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 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 RCV002564075 SCV003721288 uncertain significance Inborn genetic diseases 2024-09-24 criteria provided, single submitter clinical testing The p.P55L variant (also known as c.164C>T), located in coding exon 2 of the IDUA gene, results from a C to T substitution at nucleotide position 164. The proline at codon 55 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Revvity Omics, Revvity RCV003132340 SCV003809964 uncertain significance not provided 2023-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001243859 SCV002083086 uncertain significance Mucopolysaccharidosis type 1 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751937 SCV005364584 uncertain significance IDUA-related disorder 2024-07-10 no assertion criteria provided clinical testing The IDUA c.164C>T variant is predicted to result in the amino acid substitution p.Pro55Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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