Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000527193 | SCV000626227 | pathogenic | Fanconi anemia | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 324 of the FANCA protein (p.Leu324Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Fanconi anemia (PMID: 12697994; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 456147). 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 FANCA protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects FANCA function (PMID: 12697994). For these reasons, this variant has been classified as Pathogenic. |
| Counsyl | RCV000673548 | SCV000798761 | uncertain significance | Fanconi anemia complementation group A | 2018-03-23 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000673548 | SCV002024573 | likely pathogenic | Fanconi anemia complementation group A | 2019-01-26 | criteria provided, single submitter | clinical testing | |
| Leiden Open Variation Database | RCV000673548 | SCV001426040 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |