ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.241_242del (p.Met81fs)

dbSNP: rs1057518147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413452 SCV000491575 pathogenic not provided 2016-10-17 criteria provided, single submitter clinical testing The c.241_242delAT variant in the FLCN gene has been reported previously in at least one individual with a facial angiofibroma (Spring et al., 2013). This deletion causes a frameshift starting with codon Methionine 81, changes this amino acid to a Valine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Met81ValfsX18. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.241_242delAT to be pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital RCV000413452 SCV001449809 pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing

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