Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Prevention |
RCV000243175 | SCV000301566 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
| Illumina Laboratory Services, |
RCV000186233 | SCV001302356 | likely benign | Primary hyperoxaluria, type I | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000243175 | SCV001338438 | benign | not specified | 2020-04-30 | criteria provided, single submitter | clinical testing | Variant summary: AGXT c.166-14C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0036 in 274786 control chromosomes, predominantly at a frequency of 0.0059 within the Non-Finnish European subpopulation in the gnomAD database, including 4 homozygotes. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 2 fold of the estimated maximal expected allele frequency for a pathogenic variant in AGXT causing Primary Hyperoxaluria Type 1 phenotype (0.0024), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. c.166-14C>T has been reported in the literature as a polymorphic variant (Williams_2009). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign. |
| Invitae | RCV001512368 | SCV001719773 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Clinical Biochemistry Laboratory, |
RCV000186233 | SCV000239557 | uncertain significance | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |