ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.586A>G (p.Ile196Val)

gnomAD frequency: 0.00003  dbSNP: rs201078144
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464556 SCV000549447 likely benign Birt-Hogg-Dube syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024623 SCV001186669 likely benign Hereditary cancer-predisposing syndrome 2020-09-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000034793 SCV002007338 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with atherosclerosis, with no specific information about cancer history (PMID: 22703879); This variant is associated with the following publications: (PMID: 24755471, 29641532, 22703879)
Baylor Genetics RCV000464556 SCV004199781 uncertain significance Birt-Hogg-Dube syndrome 2023-10-16 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034793 SCV000043269 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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