Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671064 | SCV000796004 | likely pathogenic | Fanconi anemia, complementation group C | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000671064 | SCV000917337 | likely pathogenic | Fanconi anemia, complementation group C | 2018-07-02 | criteria provided, single submitter | clinical testing | Variant summary: FANCC c.996+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5 splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 121274 control chromosomes (ExAC). To our knowledge, no occurrence of c.996+1G>A in individuals affected with Fanconi Anemia Group C and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
Leiden Open Variation Database | RCV000671064 | SCV001365328 | pathogenic | Fanconi anemia, complementation group C | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Natera, |
RCV000671064 | SCV001457659 | likely pathogenic | Fanconi anemia, complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |