ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) (rs180984980)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631451 SCV000752530 uncertain significance Mucopolysaccharidosis type 1 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 4 of the IDUA protein (p.Leu4Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs180984980, ExAC 0.05%). This variant has not been reported in the literature in individuals with IDUA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Illumina Clinical Services Laboratory,Illumina RCV000631451 SCV001313629 uncertain significance Mucopolysaccharidosis type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000631451 SCV001452207 likely benign Mucopolysaccharidosis type 1 2020-06-01 no assertion criteria provided clinical testing

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