Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000436183 | SCV000523747 | uncertain significance | not provided | 2016-02-13 | criteria provided, single submitter | clinical testing | The A248V variant in the AGXT gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A248V variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A248V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. However, missense variants in nearby residues (D243H and I244T) have been reported in the Human Gene Mutation Database in association with PH1 (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret A248V as a variant of uncertain significance. |
Fulgent Genetics, |
RCV001276582 | SCV002790791 | uncertain significance | Primary hyperoxaluria, type I | 2022-02-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000436183 | SCV003448837 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243122 | SCV003940037 | uncertain significance | Inborn genetic diseases | 2023-03-29 | criteria provided, single submitter | clinical testing | The c.743C>T (p.A248V) alteration is located in exon 7 (coding exon 7) of the AGXT gene. This alteration results from a C to T substitution at nucleotide position 743, causing the alanine (A) at amino acid position 248 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001276582 | SCV001462987 | uncertain significance | Primary hyperoxaluria, type I | 2019-10-28 | no assertion criteria provided | clinical testing |