ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.981A>G (p.Ala327=)

gnomAD frequency: 0.00001  dbSNP: rs763078516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001439408 SCV001642293 likely benign Birt-Hogg-Dube syndrome 2020-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372471 SCV002689613 likely benign Hereditary cancer-predisposing syndrome 2021-06-17 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.
Fulgent Genetics, Fulgent Genetics RCV002487919 SCV002804119 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-03-31 criteria provided, single submitter clinical testing

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