ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.362_363del (p.Ile121fs)

dbSNP: rs1588220728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004551 SCV001163630 likely pathogenic Fanconi anemia complementation group C criteria provided, single submitter clinical testing
Ambry Genetics RCV002454254 SCV002616322 pathogenic Hereditary cancer-predisposing syndrome 2020-02-14 criteria provided, single submitter clinical testing The c.362_363delTA pathogenic mutation, located in coding exon 4 of the FANCC gene, results from a deletion of two nucleotides at nucleotide positions 362 to 363, causing a translational frameshift with a predicted alternate stop codon (p.I121Tfs*7). 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 RCV003769405 SCV004666282 pathogenic Fanconi anemia 2022-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile121Thrfs*7) 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. ClinVar contains an entry for this variant (Variation ID: 813471). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. This variant is not present in population databases (gnomAD no frequency).

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