ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.965T>C (p.Phe322Ser)

dbSNP: rs1588100675
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019610 SCV001180991 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-11 criteria provided, single submitter clinical testing The p.F322S variant (also known as c.965T>C), located in coding exon 9 of the FANCC gene, results from a T to C substitution at nucleotide position 965. The phenylalanine at codon 322 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is well 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.

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