ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.346C>T (p.Gln116Ter) (rs398124536)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082636 SCV000114678 pathogenic not provided 2013-08-07 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239717 SCV000298044 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492649 SCV000580755 pathogenic Hereditary cancer-predisposing syndrome 2017-01-20 criteria provided, single submitter clinical testing The p.Q116* pathogenic mutation (also known as c.346C>T), located in coding exon 2 of the FLCN gene, results from a C to T substitution at nucleotide position 346. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV000239717 SCV000756951 pathogenic Multiple fibrofolliculomas 2020-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln116*) in the FLCN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individual(s) with clinical features of Birt-Hogg-Dubé syndrome (PMID: 18234728, 30580288). ClinVar contains an entry for this variant (Variation ID: 96484). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.

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