ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)

dbSNP: rs774605197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070890 SCV001236169 pathogenic Mucopolysaccharidosis type 1 2023-10-22 criteria provided, single submitter clinical testing This variant, c.398_403del, results in the deletion of 2 amino acid(s) of the IDUA protein (p.Met133_Gly134del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774605197, gnomAD 0.006%). This variant has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 12203999, 21394825; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 486-491del6. ClinVar contains an entry for this variant (Variation ID: 863830). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
NxGen MDx RCV001374702 SCV001571610 likely pathogenic Hurler syndrome 2019-12-18 criteria provided, single submitter clinical testing This in-frame deletion (c.398_403del) in exon 4 of IDUA results in the loss of two amino acids (p.Met133_Gly134del) (PM4). This variant has a low allele frequency in GnomAD exomes (PM2) and was first reported in Venturi et al PMID 12203999 with an unknown phenotype and later in Bertola et al. PMID 21394825 and Ghosh et al. PMID: 28752568 associated with mucopolysaccharidosis type I. This variant may result in a start loss in a non-canonical transcript (NM_001363576.1), though the clinical relevance of this transcript is unknown. We interpret c.398_403del to be likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497481 SCV002807692 likely pathogenic Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2021-12-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001070890 SCV002075284 likely pathogenic Mucopolysaccharidosis type 1 2020-08-25 no assertion criteria provided clinical testing

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