Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000260839 | SCV000329878 | pathogenic | not provided | 2022-03-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 24660072, 11502829, 20688626, 30298486, 22261628, 16055933, 29707405, 29460029, 25042154, 10439971, 14564077, 16636593, 21050253, 9768674, 19219621, 22101457, 22713460, 9097956, 9199930, 22695891, 18162710, 30599486, 30682568, 32104046, 32253725, 29505567, 34434907, 33639975, 32329911, 34141703, 27535533) |
Institute Of Human Genetics Munich, |
RCV000505461 | SCV000599609 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2013-11-19 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000505461 | SCV001141539 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000260839 | SCV001206281 | pathogenic | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 534 of the PHEX protein (p.Pro534Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with PHEX-related conditions (PMID: 9097956, 18162710, 19219621, 22261628, 29460029, 29505567). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 280076). 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) performed at Invitae indicates that this missense variant is expected to disrupt PHEX protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Cyto- |
RCV001843504 | SCV002102783 | pathogenic | Hypophosphatemic rickets | 2022-03-07 | criteria provided, single submitter | clinical testing |