ClinVar Miner

Submissions for variant NM_000143.4(FH):c.40C>T (p.Leu14Phe)

gnomAD frequency: 0.00003  dbSNP: rs981562354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002509481 SCV000756705 likely benign not provided 2023-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325224 SCV002631431 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-20 criteria provided, single submitter clinical testing The p.L14F variant (also known as c.40C>T), located in coding exon 1 of the FH gene, results from a C to T substitution at nucleotide position 40. The leucine at codon 14 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved on limited sequence alignment. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002509481 SCV002818806 uncertain significance not provided 2022-12-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000635308 SCV001455899 uncertain significance Fumarase deficiency 2019-10-28 no assertion criteria provided clinical testing

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