ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.143T>C (p.Met48Thr)

gnomAD frequency: 0.00001  dbSNP: rs1353498563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688685 SCV000816307 uncertain significance Fanconi anemia 2023-09-29 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 568353). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 48 of the FANCC protein (p.Met48Thr).
Ambry Genetics RCV001011588 SCV001171926 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-15 criteria provided, single submitter clinical testing The p.M48T variant (also known as c.143T>C), located in coding exon 1 of the FANCC gene, results from a T to C substitution at nucleotide position 143. The methionine at codon 48 is replaced by threonine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485623 SCV002784631 uncertain significance Fanconi anemia complementation group C 2021-10-06 criteria provided, single submitter clinical testing

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