Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169587 | SCV000221094 | likely pathogenic | Primary hyperoxaluria, type I | 2015-01-28 | criteria provided, single submitter | literature only | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001328354 | SCV001519444 | pathogenic | Primary hyperoxaluria | 2021-03-12 | criteria provided, single submitter | clinical testing | Variant summary: AGXT c.976delG (p.Val326TyrfsX15) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8e-06 in 249898 control chromosomes (gnomAD and publication data). c.976delG has been reported in the literature in multiple individuals affected with Primary Hyperoxaluria Type 1 (Pirulli_1999, van der Hoeven_2012, Kuhn_2014, Isiyel_2016). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Invitae | RCV001382061 | SCV001580668 | pathogenic | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189161). This premature translational stop signal has been observed in individuals with hyperoxaluria (PMID: 22844106, 26383609). This variant is present in population databases (rs180177301, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Val326Tyrfs*15) in the AGXT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). |
Baylor Genetics | RCV000169587 | SCV004197152 | pathogenic | Primary hyperoxaluria, type I | 2023-04-25 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV000169587 | SCV000239767 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |