ClinVar Miner

Submissions for variant NM_000143.4(FH):c.1030T>C (p.Phe344Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002383773 SCV002697241 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-19 criteria provided, single submitter clinical testing The p.F344L variant (also known as c.1030T>C), located in coding exon 7 of the FH gene, results from a T to C substitution at nucleotide position 1030. The phenylalanine at codon 344 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003464512 SCV004197326 uncertain significance Fumarase deficiency 2023-08-31 criteria provided, single submitter clinical testing

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