ClinVar Miner

Submissions for variant NM_000143.3(FH):c.1446A>C (p.Leu482Phe) (rs863223979)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198419 SCV000251437 likely pathogenic not provided 2013-04-26 criteria provided, single submitter clinical testing p.Leu482Phe (TTA>TTC): c.1446 A>C in exon 10 of the FH gene (NM_000143.3). The L482F missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative because both Leucine and Phenylalanine are uncharged, non-polar amino acids. However, this change occurs at a conserved position in the FH protein, and multiple in-silico analysis programs predict that L482F is damaging to the FH protein. Therefore, L482F is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).

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