ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)

gnomAD frequency: 0.00007  dbSNP: rs371369206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245581 SCV001418878 uncertain significance Mucopolysaccharidosis type 1 2022-07-12 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 637 of the IDUA protein (p.Pro637Leu). This variant is present in population databases (rs371369206, 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: 970078). 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.
Natera, Inc. RCV001245581 SCV002075395 uncertain significance Mucopolysaccharidosis type 1 2020-10-23 no assertion criteria provided clinical testing

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