Submissions for variant NM_144997.7(FLCN):c.1433-5C>A

dbSNP: rs781046590

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000570303	SCV000673478	uncertain significance	Hereditary cancer-predisposing syndrome	2024-01-29	criteria provided, single submitter	clinical testing	The c.1433-5C>A intronic variant results from a C to A substitution 5 nucleotides upstream from coding exon 10 in the FLCN gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001401401	SCV001603224	likely benign	Birt-Hogg-Dube syndrome	2024-11-29	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478286	SCV004219704	uncertain significance	not provided	2023-07-04	criteria provided, single submitter	clinical testing	To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/251420 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on FLCN mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant.