ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1274T>C (p.Leu425Pro)

dbSNP: rs1588047966
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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 RCV001010693 SCV001170926 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter clinical testing The p.L425P variant (also known as c.1274T>C), located in coding exon 12 of the FANCC gene, results from a T to C substitution at nucleotide position 1274. The leucine at codon 425 is replaced by proline, an amino acid with 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.
Natera, Inc. RCV001274614 SCV001458898 uncertain significance Fanconi anemia complementation group C 2020-01-24 no assertion criteria provided clinical testing

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