Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082640 | SCV000114682 | pathogenic | not provided | 2013-01-31 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000133394 | SCV000298051 | pathogenic | Birt-Hogg-Dube syndrome | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000133394 | SCV000632880 | pathogenic | Birt-Hogg-Dube syndrome | 2023-10-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala204*) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with Birt-Hogg-Dubé syndrome (BHD) (PMID: 17611575, 18234728, 20522427, 25519458, 26603437, 27652079). It has also been observed to segregate with disease in related individuals. This variant is also known as c.1065_1066delGCinsTA. ClinVar contains an entry for this variant (Variation ID: 96488). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000082640 | SCV001795158 | pathogenic | not provided | 2019-04-30 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 17611575, 25519458, 18234728, 26603437, 21538689, 20522427) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000082640 | SCV004219725 | pathogenic | not provided | 2023-03-16 | criteria provided, single submitter | clinical testing | This nonsense variant causes the premature termination of FLCN protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in multiple individuals and families with Birt-Hogg-Dubé syndrome (BDH) (PMID: 17611575 (2008), 18234728 (2008), 20522427 (2010), 22146830 (2011), 25519458 (2014), 26603437 (2016), 27652079 (2016)). A functional study found this variant impairs the stability of the folliculin protein (PMID: 21538689 (2011)). Based on the available information, this variant is classified as pathogenic. |
OMIM | RCV000133394 | SCV000023703 | pathogenic | Birt-Hogg-Dube syndrome | 2010-06-01 | no assertion criteria provided | literature only | |
Gene |
RCV000133394 | SCV000188411 | not provided | Birt-Hogg-Dube syndrome | no assertion provided | literature only |