ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.932C>T (p.Pro311Leu)

gnomAD frequency: 0.00010  dbSNP: rs377684568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802738 SCV000942581 uncertain significance Mucopolysaccharidosis type 1 2022-10-02 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 311 of the IDUA protein (p.Pro311Leu). This variant is present in population databases (rs377684568, gnomAD 0.03%). 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: 648087). 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 RCV002534721 SCV003605259 uncertain significance Inborn genetic diseases 2021-05-10 criteria provided, single submitter clinical testing The c.932C>T (p.P311L) alteration is located in exon 7 (coding exon 7) of the IDUA gene. This alteration results from a C to T substitution at nucleotide position 932, causing the proline (P) at amino acid position 311 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000802738 SCV001461757 uncertain significance Mucopolysaccharidosis type 1 2020-09-16 no assertion criteria provided clinical testing

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