Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV003390804 | SCV004119829 | uncertain significance | FLCN-related condition | 2022-11-11 | criteria provided, single submitter | clinical testing | The FLCN c.971C>T variant is predicted to result in the amino acid substitution p.Ala324Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.18% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17124751-G-A) which is likely too frequent for a disease-causing variant in FLCN. This variant is reported in the ClinVar database, but no interpretation is provided (https://www.ncbi.nlm.nih.gov/clinvar/variation/134428/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
ITMI | RCV000121105 | SCV000085273 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |