ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282814 SCV002570531 uncertain significance not specified 2022-07-19 criteria provided, single submitter clinical testing Variant summary: IDUA c.1331_1342dup12 (p.Asp444_Arg447dup) results in an in-frame duplication that is predicted to duplicate 4 amino acids (DDTR) into the encoded protein. The variant allele was found at a frequency of 6.6e-06 in 150568 control chromosomes (gnomAD v3.1). To our knowledge, no occurrence of c.1331_1342dup12 in individuals affected with Mucopolysaccharidosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101613 SCV003501857 uncertain significance Mucopolysaccharidosis type 1 2022-01-26 criteria provided, single submitter clinical testing This variant, c.1331_1342dup, results in the insertion of 4 amino acid(s) of the IDUA protein (p.Asp444_Arg447dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV003134419 SCV003817594 uncertain significance not provided 2023-01-18 criteria provided, single submitter clinical testing

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