ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.752G>A (p.Trp251Ter)

dbSNP: rs879255663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239672 SCV000298057 pathogenic Birt-Hogg-Dube syndrome 2016-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298321 SCV004004211 pathogenic Hereditary cancer-predisposing syndrome 2023-04-11 criteria provided, single submitter clinical testing The p.W251* pathogenic mutation (also known as c.752G>A), located in coding exon 4 of the FLCN gene, results from a G to A substitution at nucleotide position 752. This changes the amino acid from a tryptophan to a stop codon within coding exon 4. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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