ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)

dbSNP: rs776529713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569363 SCV000673351 pathogenic Hereditary cancer-predisposing syndrome 2017-08-08 criteria provided, single submitter clinical testing The p.Q316* pathogenic mutation (also known as c.946C>T), located in coding exon 9 of the FANCC gene, results from a C to T substitution at nucleotide position 946. This changes the amino acid from a glutamine to a stop codon within coding exon 9. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000818488 SCV000959103 pathogenic Fanconi anemia 2023-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln316*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 485554). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is present in population databases (rs776529713, gnomAD 0.0009%).
Baylor Genetics RCV004569262 SCV005057603 likely pathogenic Fanconi anemia complementation group C 2024-03-16 criteria provided, single submitter clinical testing

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