Total submissions: 11
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000400163 | SCV000331009 | benign | not specified | 2017-08-25 | criteria provided, single submitter | clinical testing | |
| Center for Pediatric Genomic Medicine, |
RCV000435479 | SCV000511610 | benign | not provided | 2017-01-27 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001082638 | SCV001120251 | benign | Mucopolysaccharidosis type 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001082638 | SCV001317788 | benign | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000400163 | SCV001363958 | benign | not specified | 2021-11-01 | criteria provided, single submitter | clinical testing | Variant summary: IDUA c.296C>T (p.Thr99Ile) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0021 in 218770 control chromosomes, predominantly at a frequency of 0.021 within the African or African-American subpopulation in the gnomAD database, including 4 homozygotes. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 8 fold of the estimated maximal expected allele frequency for a pathogenic variant in IDUA causing Mucopolysaccharidosis Type 1 phenotype (0.0027), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. . In the literature, c.296C>T, has been identified during newborn screening for lysosomal storage disorders in an African newborn together with two pseudodeficiency variants that could explain the detected lower enzyme activity (Burlina_2017). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven ClinVar submitters (evaluation after 2014) cite the variant as benign. Based on the evidence outlined above, the variant was classified as benign. |
| Gene |
RCV000435479 | SCV001893436 | benign | not provided | 2019-12-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30442156, 29143201) |
| Al Jalila Children’s Genomics Center, |
RCV000400163 | SCV001984345 | benign | not specified | 2020-03-25 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV000435479 | SCV004147437 | benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | IDUA: BP4, BS1, BS2 |
| Breakthrough Genomics, |
RCV000435479 | SCV005306353 | benign | not provided | criteria provided, single submitter | not provided | ||
| Mayo Clinic Laboratories, |
RCV000435479 | SCV000801293 | benign | not provided | 2016-07-27 | no assertion criteria provided | clinical testing | |
| Natera, |
RCV001082638 | SCV002083093 | benign | Mucopolysaccharidosis type 1 | 2017-05-16 | no assertion criteria provided | clinical testing |