ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003356323 SCV004068917 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-29 criteria provided, single submitter clinical testing The p.S372P variant (also known as c.1114T>C), located in coding exon 11 of the FANCC gene, results from a T to C substitution at nucleotide position 1114. The serine at codon 372 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989837 SCV004806826 likely pathogenic Fanconi anemia complementation group C 2024-03-26 criteria provided, single submitter clinical testing

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