ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.169del (p.Ser57fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468118 SCV004196669 likely pathogenic Fanconi anemia complementation group C 2023-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364767 SCV005032518 pathogenic Hereditary cancer-predisposing syndrome 2023-10-26 criteria provided, single submitter clinical testing The c.169delT pathogenic mutation, located in coding exon 2 of the FANCC gene, results from a deletion of one nucleotide at nucleotide position 169, causing a translational frameshift with a predicted alternate stop codon (p.S57Lfs*25). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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