ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe)

dbSNP: rs1064793901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486462 SCV000567307 uncertain significance not provided 2015-07-21 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1357C>T at the cDNA level, p.Leu453Phe (L453F) at the protein level, and results in the change of a Leucine to a Phenylalanine (CTC>TTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Leu453Phe was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Leucine and Phenylalanine share similar properties, this is considered a conservative amino acid substitution. FANCC Leu453Phe occurs at a position where amino acids with properties similar to Leucine are tolerated across species and is not located in a known functional domain (Gordon 2000). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether FANCC Leu453Phe is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV003298547 SCV004006307 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-21 criteria provided, single submitter clinical testing The p.L453F variant (also known as c.1357C>T), located in coding exon 13 of the FANCC gene, results from a C to T substitution at nucleotide position 1357. The leucine at codon 453 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001273981 SCV001457642 uncertain significance Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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