ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.171dup (p.Met58fs)

dbSNP: rs886041203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000320045 SCV000329350 pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD)
Invitae RCV001383231 SCV001582318 pathogenic Birt-Hogg-Dube syndrome 2021-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant has not been reported in the literature in individuals with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 279810). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met58Aspfs*42) in the FLCN gene. It is expected to result in an absent or disrupted protein product.

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