ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.656T>A (p.Phe219Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1588181383
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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 RCV001025419 SCV001187603 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-09 criteria provided, single submitter clinical testing The p.F219Y variant (also known as c.656T>A), located in coding exon 6 of the FANCC gene, results from a T to A substitution at nucleotide position 656. The phenylalanine at codon 219 is replaced by tyrosine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001832359 SCV004517784 uncertain significance Fanconi anemia 2023-03-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 826489). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FANCC protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 219 of the FANCC protein (p.Phe219Tyr).
Natera, Inc. RCV001832359 SCV002081236 uncertain significance Fanconi anemia 2018-09-12 no assertion criteria provided clinical testing

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