Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433201 | SCV000516825 | likely benign | not specified | 2016-03-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001063987 | SCV001228859 | uncertain significance | not provided | 2024-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 62 of the PHEX protein (p.Ala62Val). This variant is present in population databases (rs145393882, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of hypophosphatemia (PMID: 34633109; internal data). ClinVar contains an entry for this variant (Variation ID: 379615). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Revvity Omics, |
RCV003133256 | SCV003814921 | uncertain significance | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2022-06-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV003133256 | SCV005682775 | likely benign | Familial X-linked hypophosphatemic vitamin D refractory rickets | 2024-04-10 | criteria provided, single submitter | clinical testing |