Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520111 | SCV000621243 | uncertain significance | not provided | 2023-09-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001271741 | SCV003293783 | uncertain significance | PHGDH deficiency | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 419 of the PHGDH protein (p.Gly419Arg). This variant is present in population databases (rs145344767, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with PHGDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 452434). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PHGDH protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV002527643 | SCV003568715 | uncertain significance | Inborn genetic diseases | 2021-12-02 | criteria provided, single submitter | clinical testing | The c.1255G>A (p.G419R) alteration is located in exon 11 (coding exon 11) of the PHGDH gene. This alteration results from a G to A substitution at nucleotide position 1255, causing the glycine (G) at amino acid position 419 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003338639 | SCV004049124 | uncertain significance | Neu-Laxova syndrome 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001271741 | SCV004049125 | uncertain significance | PHGDH deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271741 | SCV001453150 | likely benign | PHGDH deficiency | 2019-11-22 | no assertion criteria provided | clinical testing |