Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000297551 | SCV000451777 | uncertain significance | Mucopolysaccharidosis type 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Invitae | RCV000297551 | SCV000627151 | likely benign | Mucopolysaccharidosis type 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV000297551 | SCV001422675 | likely benign | Mucopolysaccharidosis type 1 | 2020-01-13 | criteria provided, single submitter | curation | The c.793-9C>T variant in IDUA has not been previously reported in individuals with mucopolysaccharidosis but has been Identified in 0.080% (16/19890) of European (Finnish) chromosomes in the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs375798875). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant has also been reported in ClinVar (VariationID: 350225) as a VUS by Illumina Clinical Services Laboratory and as likely benign by Invitae. Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: BP4, BP7 (Richards 2015). |
Natera, |
RCV000297551 | SCV001461755 | likely benign | Mucopolysaccharidosis type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |