ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1230G>A (p.Glu410=)

gnomAD frequency: 0.00001  dbSNP: rs749287631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001492689 SCV001697306 likely benign Birt-Hogg-Dube syndrome 2023-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298873 SCV004004213 likely benign Hereditary cancer-predisposing syndrome 2023-04-07 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.
PreventionGenetics, part of Exact Sciences RCV003908764 SCV004718633 likely benign FLCN-related condition 2019-04-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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