Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808868 | SCV000948996 | pathogenic | Fanconi anemia | 2023-05-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg253*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 653154). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17436244). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs374328858, gnomAD 0.004%). |
Ce |
RCV001726335 | SCV001962464 | pathogenic | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV001194906 | SCV004175624 | pathogenic | Fanconi anemia complementation group D2 | 2023-02-24 | criteria provided, single submitter | clinical testing | The FANCD2 c.757C>T variant is classified as Pathogenic (PVS1, PS4_supporting, PM2) The FANCD2 c.757C>T variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 253 (PVS1). The variant has been reported in 3 probands with a clinical presentation of Fanconi anaemia and pancreatic ductal adenocarcinoma (HGMD: CM071747) (PMID:17436244, PMID:30716324) (PS4_Supporting). The variant is rare in population databases (gnomAD allele frequency = 0.0019%; 3 het and 0 hom in 152070 sequenced alleles; highest frequency = 0.020%, South Asian population) (PM2). The variant has been reported in dbSNP (rs374328858) and in the HGMD database: CM071747. It has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 653154). |
Baylor Genetics | RCV001194906 | SCV004196731 | pathogenic | Fanconi anemia complementation group D2 | 2023-09-13 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194906 | SCV001364768 | pathogenic | Fanconi anemia complementation group D2 | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |