ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1601del (p.Lys534fs) (rs886039371)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255154 SCV000321671 pathogenic not provided 2015-05-06 criteria provided, single submitter clinical testing The c.1601delA variant in the FLCN gene causes a frameshift starting with codon Lysine 564, changes this amino acid to a Serine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Lys534SerfsX3. This variant is predicted to cause loss of normal protein function through protein truncation. Nearby variants (W511X, R527X, Q533X) have been published in The Human Gene Mutation Database associated with Bit-Hogg-Dube. The c.1601delA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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