Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692482 | SCV000820307 | pathogenic | Fanconi anemia | 2023-09-23 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 303 of the FANCG protein (p.Leu303Pro). For these reasons, this variant has been classified as Pathogenic. 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 FANCG protein function. ClinVar contains an entry for this variant (Variation ID: 571355). This missense change has been observed in individuals with clinical features of Fanconi anemia (PMID: 12552564, 33718801; Invitae). This variant is not present in population databases (gnomAD no frequency). |
Baylor Genetics | RCV001194955 | SCV004199128 | likely pathogenic | Fanconi anemia complementation group G | 2023-09-03 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194955 | SCV001364824 | pathogenic | Fanconi anemia complementation group G | 2011-02-07 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |