Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672199 | SCV000797280 | likely pathogenic | Fanconi anemia, complementation group A | 2018-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001222479 | SCV001394578 | likely pathogenic | Fanconi anemia | 2019-09-19 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 1305 of the FANCA protein (p.Leu1305Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs753700179, ExAC 0.01%). This variant has been observed in individuals with Fanconi anemia (PMID: 21273304, 29098742, 19278965, 29904161). ClinVar contains an entry for this variant (Variation ID: 556224). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
OMIM | RCV000672199 | SCV000886139 | pathogenic | Fanconi anemia, complementation group A | 2019-02-14 | no assertion criteria provided | literature only | |
Leiden Open Variation Database | RCV000672199 | SCV001426122 | pathogenic | Fanconi anemia, complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |