ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.90C>G (p.His30Gln)

gnomAD frequency: 0.00001  dbSNP: rs553425887
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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 RCV001936986 SCV002218864 uncertain significance Mucopolysaccharidosis type 1 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 30 of the IDUA protein (p.His30Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002484713 SCV002786925 uncertain significance Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2021-07-23 criteria provided, single submitter clinical testing

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