ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.171dup (p.Met58fs) (rs886041203)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000320045 SCV000329350 pathogenic not provided 2017-09-07 criteria provided, single submitter clinical testing This duplication of one nucleotide in FLCN is denoted c.171dupG at the cDNA level and p.Met58AspfsX42 (M58DfsX42) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GTCG[dupG]ATGC. The duplication causes a frameshift which changes a Methionine to an Aspartic Acid at codon 58, and creates a premature stop codon at position 42 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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