ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)

dbSNP: rs1715147247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001319324 SCV001510065 uncertain significance Mucopolysaccharidosis type 1 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 369 of the IDUA protein (p.Phe369Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). 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.
Natera, Inc. RCV001319324 SCV002075335 uncertain significance Mucopolysaccharidosis type 1 2019-09-11 no assertion criteria provided clinical testing

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