ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1815dup (p.Val606fs)

dbSNP: rs2153023210
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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 RCV001939406 SCV002227828 pathogenic Mucopolysaccharidosis type 1 2021-09-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the IDUA protein in which other variant(s) (p.Ser633Leu) have been determined to be pathogenic (PMID: 11735025, 16438163, 21480867, 26825088, 27146977). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This frameshift has been observed in individual(s) with clinical features of mucopolysaccharidosis type I (PMID: 31758674). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the IDUA gene (p.Val606Cysfs*53). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the IDUA protein and extend the protein by 4 additional amino acid residues.
Fulgent Genetics, Fulgent Genetics RCV005031998 SCV005667792 likely pathogenic Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2024-06-12 criteria provided, single submitter clinical testing

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