ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) (rs398124538)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV000133394 SCV000632880 pathogenic Multiple fibrofolliculomas 2017-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 204 (p.Ala204*) of 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. This particular variant has been reported in the literature in many families and individuals affected with Birt-Hogg-Dubé syndrome (BHD) (PMID: 17611575, 18234728, 20522427, 25519458, 26603437, 27652079). This variant is also known as c.1065_1066delGCinsTA in the literature. An experimental study has shown that this sequence change impairs the stability of the FLCN protein in cell culture (PMID: 21538689). 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)
GeneReviews RCV000133394 SCV000188411 pathogenic Multiple fibrofolliculomas 2014-08-07 no assertion criteria provided literature only

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