Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070865 | SCV001236143 | pathogenic | not provided | 2023-09-25 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with hyperoxaluria (PMID: 11708860). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 679-(IVS6+2)delAAgt . ClinVar contains an entry for this variant (Variation ID: 204195). For these reasons, this variant has been classified as Pathogenic. This variant results in the deletion of part of exon 6 (c.679_680+2del) of the AGXT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). This variant is present in population databases (rs180177255, gnomAD 0.02%). |
Baylor Genetics | RCV000186402 | SCV004192916 | pathogenic | Primary hyperoxaluria, type I | 2022-05-16 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV000186402 | SCV000239752 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research | |
Natera, |
RCV000186402 | SCV002076475 | pathogenic | Primary hyperoxaluria, type I | 2021-09-06 | no assertion criteria provided | clinical testing |