ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.170G>A (p.Arg57Gln)

gnomAD frequency: 0.00001  dbSNP: rs749770193
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635545 SCV000756961 uncertain significance Birt-Hogg-Dube syndrome 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 57 of the FLCN protein (p.Arg57Gln). This variant is present in population databases (rs749770193, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of FLCN-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 529988). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001012837 SCV001173342 likely benign Hereditary cancer-predisposing syndrome 2022-04-18 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.
Revvity Omics, Revvity RCV003488745 SCV004234798 uncertain significance not provided 2023-06-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004788053 SCV005407483 likely benign Birt-Hogg-Dube syndrome 1 2024-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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