Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761291 | SCV000891264 | pathogenic | Fanconi anemia complementation group G | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001067732 | SCV001232804 | pathogenic | Fanconi anemia | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser387Leufs*9) in the FANCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). This variant is present in population databases (rs781582249, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 23613520, 28717661). ClinVar contains an entry for this variant (Variation ID: 623182). For these reasons, this variant has been classified as Pathogenic. |
Knight Diagnostic Laboratories, |
RCV001067732 | SCV001448810 | likely pathogenic | Fanconi anemia | 2017-10-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000761291 | SCV002806829 | pathogenic | Fanconi anemia complementation group G | 2022-04-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000761291 | SCV004199112 | pathogenic | Fanconi anemia complementation group G | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001067732 | SCV004803272 | pathogenic | Fanconi anemia | 2024-01-12 | criteria provided, single submitter | clinical testing | Variant summary: FANCG c.1158dupC (p.Ser387LeufsX9) results in a premature termination codon and is expected to cause absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant allele was found at a frequency of 3.6e-05 in 223442 control chromosomes (gnomAD). c.1158dupC has been reported in the literature as a biallelic genotype in at least one individual affected with Fanconi Anemia (e.g. Chandrasekharappa_2013). These data suggest the variant is very likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 23613520). ClinVar contains an entry for this variant (Variation ID: 623182). Based on the evidence outlined above, the variant was classified as pathogenic. |
Leiden Open Variation Database | RCV000761291 | SCV001364833 | uncertain significance | Fanconi anemia complementation group G | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Natera, |
RCV000761291 | SCV002077450 | pathogenic | Fanconi anemia complementation group G | 2020-09-03 | no assertion criteria provided | clinical testing |