ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)

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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 RCV002612346 SCV003513456 uncertain significance Mucopolysaccharidosis type 1 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 307 of the IDUA protein (p.Ser307Phe). This variant is present in population databases (rs113373271, gnomAD 0.01%). 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 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.
Revvity Omics, Revvity RCV003130855 SCV003817630 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing

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