ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter)

dbSNP: rs398124538
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082640 SCV000114682 pathogenic not provided 2013-01-31 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 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.
GeneDx 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
GeneReviews RCV000133394 SCV000188411 not provided Birt-Hogg-Dube syndrome no assertion provided literature only

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