Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000412793 | SCV000490706 | pathogenic | not provided | 2022-03-18 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 9106524, 26040324, 23466123, 11004247, 27840894, 11502829, 29460029, 19219621, 9199930, 30607568, 30682568, 30298486, 29707405, 34434907, 33639975, 32329911, 34006472, 34141703, 33537138) |
Institute of Human Genetics Munich, |
RCV000505415 | SCV000599608 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2015-04-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000505415 | SCV000893826 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000412793 | SCV001144931 | pathogenic | not provided | 2019-07-10 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. |
Labcorp Genetics |
RCV000412793 | SCV001225097 | pathogenic | not provided | 2024-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg291*) in the PHEX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypophosphatemic rickets (PMID: 9106524, 11004247, 23466123, 26040324, 29460029, 30298486). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 372454). For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Cyto- |
RCV001843518 | SCV002102815 | pathogenic | Hypophosphatemic rickets | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Center of Excellence, |
RCV000505415 | SCV004231797 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2024-10-07 | criteria provided, single submitter | clinical testing | |
Molecular Genetics, |
RCV000505415 | SCV005900428 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2024-09-08 | criteria provided, single submitter | clinical testing | This sequence change in PHEX is a nonsense variant predicted to create a premature stop codon, p.(Arg291*), in biologically relevant exon 8/22 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PMID: 22319799). Loss-of-function variants are a well-established cause of disease in exon 8 (ClinVar). This variant is absent from the population database gnomAD v4.1. This variant has been reported in multiple individuals with hypophosphataemia and segregates with hypophosphataemia in two unrelated families (PMID: 34633109, 11004247, 11502829). This variant has also been identified as a de novo occurrence with confirmed parental relationships in an individual and as a de novo occurrence with unconfirmed parental relationships in another individual with hypophosphataemic rickets (PMID: 36482408, 32329911). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.7.0, this variant is classified as PATHOGENIC. Following criteria are met: PVS1, PS4, PM2_Supporting, PM5_Supporting, PS2_Moderate/PM6 |
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV000505415 | SCV001482382 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2019-05-31 | no assertion criteria provided | research |