Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000459859 | SCV000544996 | uncertain significance | Haddad syndrome | 2024-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 276 of the PHOX2B protein (p.Gly276Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PHOX2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 135035). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Gene |
RCV001785471 | SCV002027981 | uncertain significance | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian 2014); This variant is associated with the following publications: (PMID: 24728327) |
| Ambry Genetics | RCV002408628 | SCV002675712 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-11 | criteria provided, single submitter | clinical testing | The p.G276S variant (also known as c.826G>A), located in coding exon 3 of the PHOX2B gene, results from a G to A substitution at nucleotide position 826. The glycine at codon 276 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS One, 2014 Apr;9:e94554). In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003474730 | SCV004203979 | uncertain significance | Neuroblastoma, susceptibility to, 2 | 2024-03-01 | criteria provided, single submitter | clinical testing | |
| ITMI | RCV000121808 | SCV000086006 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |