Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003313185 | SCV004012611 | pathogenic | not provided | 2025-04-17 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17436244) |
Baylor Genetics | RCV001194924 | SCV004196723 | pathogenic | Fanconi anemia complementation group D2 | 2023-09-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001194924 | SCV005661314 | pathogenic | Fanconi anemia complementation group D2 | 2024-05-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV005094035 | SCV005834373 | pathogenic | Fanconi anemia | 2024-06-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu888Argfs*16) in the FANCD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCD2 are known to be pathogenic (PMID: 17436244). This variant is present in population databases (rs762544228, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 17436244). ClinVar contains an entry for this variant (Variation ID: 929662). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV001194924 | SCV001364789 | pathogenic | Fanconi anemia complementation group D2 | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |