ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.555C>A (p.Ser185=)

dbSNP: rs748363919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864248 SCV001005025 likely benign Birt-Hogg-Dube syndrome 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024273 SCV001186258 likely benign Hereditary cancer-predisposing syndrome 2019-04-10 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 RCV001776067 SCV002013842 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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