ClinVar Miner

Submissions for variant NM_000143.4(FH):c.120C>G (p.Asn40Lys)

gnomAD frequency: 0.00006  dbSNP: rs876658186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010297 SCV001170471 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-19 criteria provided, single submitter clinical testing The p.N40K variant (also known as c.120C>G), located in coding exon 1 of the FH gene, results from a C to G substitution at nucleotide position 120. The asparagine at codon 40 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549316 SCV001200476 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001037079 SCV001458388 uncertain significance Fumarase deficiency 2020-09-16 no assertion criteria provided clinical testing

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