Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000884267 | SCV001027633 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000186220 | SCV001299486 | uncertain significance | Primary hyperoxaluria, type I | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Preventiongenetics, |
RCV003416113 | SCV004113185 | uncertain significance | AGXT-related condition | 2022-09-26 | criteria provided, single submitter | clinical testing | The AGXT c.32C>A variant is predicted to result in the amino acid substitution p.Pro11His. To our knowledge, this variant has not been reported in the literature. However, a different amino acid substitution affecting the same residue (p.Pro11Arg) has been reported to impact the catalytic activity of the AGT enzyme (Williams et al. 2009. PubMed ID: 19479957). The c.32C>A (p.Pro11His) variant is reported in 0.14% of alleles in individuals of East Asian descent in gnomAD, including 2 homozygotes (http://gnomad.broadinstitute.org/variant/2-241808314-C-A). While we suspect this variant is benign, at this time we interpret its clinical significance as uncertain due to the absence of conclusive functional and genetic evidence. |
Clinical Biochemistry Laboratory, |
RCV000186220 | SCV000239544 | uncertain significance | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | in vitro |