ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys)

gnomAD frequency: 0.00037  dbSNP: rs143183215
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233961 SCV000291426 likely benign Birt-Hogg-Dube syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492247 SCV000580716 likely benign Hereditary cancer-predisposing syndrome 2018-09-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001582792 SCV001813473 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in a patient with spontaneous pneumothorax but does not meet diagnostic criteria for Birt-Hogg-Dub syndrome (Zhang et al., 2023); This variant is associated with the following publications: (PMID: 17028174, 30190612, 36410626)
Sema4, Sema4 RCV000492247 SCV002530102 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001582792 SCV004218914 likely benign not provided 2023-05-02 criteria provided, single submitter clinical testing

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