ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.830A>T (p.Lys277Ile)

gnomAD frequency: 0.00003  dbSNP: rs1349398241
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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 RCV001017532 SCV001178622 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-25 criteria provided, single submitter clinical testing The p.K277I variant (also known as c.830A>T), located in coding exon 7 of the FANCC gene, results from an A to T substitution at nucleotide position 830. The lysine at codon 277 is replaced by isoleucine, an amino acid with dissimilar 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001832342 SCV004283726 uncertain significance Fanconi anemia 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 277 of the FANCC protein (p.Lys277Ile). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 822285). 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 not 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.
Natera, Inc. RCV001832342 SCV002081214 uncertain significance Fanconi anemia 2018-07-05 no assertion criteria provided clinical testing

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