Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000709010 | SCV000838211 | uncertain significance | Hereditary cancer | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001048849 | SCV001212874 | uncertain significance | EGFR-related lung cancer | 2024-01-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 675 of the EGFR protein (p.Arg675Gln). This variant is present in population databases (rs150423237, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 134025). 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 not expected to disrupt EGFR protein function with a negative predictive value of 80%. 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. |
Ce |
RCV002055330 | SCV002497516 | uncertain significance | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257421 | SCV002537337 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-19 | criteria provided, single submitter | curation | |
Revvity Omics, |
RCV002055330 | SCV004234685 | uncertain significance | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905146 | SCV004718419 | uncertain significance | EGFR-related condition | 2024-02-06 | criteria provided, single submitter | clinical testing | The EGFR c.2024G>A variant is predicted to result in the amino acid substitution p.Arg675Gln. This variant has been reported as a germline variant in individuals with central nervous system tumors and breast cancer (Table S5, Akhavanfard et al. 2021. PubMed ID: 33326033; Table S3, Guindalini et al. 2022. PubMed ID: 352645960) and as a somatic variant in a patient with non-small cell lung cancer (Table 2, Stein et al. 2017. PubMed ID: 28573640). This variant is reported in 0.037% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
ITMI | RCV000120694 | SCV000084855 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |