Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000186392 | SCV000485620 | pathogenic | Primary hyperoxaluria, type I | 2016-01-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192773 | SCV001361101 | pathogenic | Primary hyperoxaluria | 2019-06-30 | criteria provided, single submitter | clinical testing | Variant summary: AGXT c.447_454delGCTGCTGT (p.Leu151AsnfsX14) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 213810 control chromosomes (gnomAD) but has been reported in the literature in multiple individuals (primarily of Asian origin) affected with Primary Hyperoxaluria Type 1 (Williams_2007, Dutta_2016). These data indicate that the variant is very likely to be associated with disease. Enzymatic activity measured from a homozygous individual harboring this variant show 6% of mean control activity (Williams_2007). A ClinVar submission (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Fulgent Genetics, |
RCV000186392 | SCV002811683 | pathogenic | Primary hyperoxaluria, type I | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000186392 | SCV003809048 | pathogenic | Primary hyperoxaluria, type I | 2023-01-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000186392 | SCV004192850 | pathogenic | Primary hyperoxaluria, type I | 2022-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003556230 | SCV004292184 | pathogenic | not provided | 2023-09-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu151Asnfs*14) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria (PMID: 17495019, 27512303). This variant is also known as c.445_452delGTGCTGCT. ClinVar contains an entry for this variant (Variation ID: 204185). For these reasons, this variant has been classified as Pathogenic. |
Clinical Biochemistry Laboratory, |
RCV000186392 | SCV000239742 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |