ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.70C>T (p.Gln24Ter)

dbSNP: rs2136101386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV001615391 SCV001832585 pathogenic Fanconi anemia criteria provided, single submitter clinical testing
Ambry Genetics RCV002368623 SCV002664137 pathogenic Hereditary cancer-predisposing syndrome 2022-09-29 criteria provided, single submitter clinical testing The p.Q24* pathogenic mutation (also known as c.70C>T), located in coding exon 1 of the FANCC gene, results from a C to T substitution at nucleotide position 70. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Neuberg Centre For Genomic Medicine, NCGM RCV003339687 SCV004047312 likely pathogenic Fanconi anemia complementation group C criteria provided, single submitter clinical testing The stop gained variant c.70C>T(p.Gln24Ter) in FANCC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Pathogenic. The c.70C>T variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change c.70C>T in FANCC is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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