ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)

dbSNP: rs1064795597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482484 SCV000571562 likely pathogenic not provided 2022-12-25 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in individuals with breast cancer (Palmer et al., 2020); This variant is associated with the following publications: (PMID: 32427313)
Invitae RCV003635918 SCV004558962 pathogenic Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu348Argfs*25) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32427313). ClinVar contains an entry for this variant (Variation ID: 422160). For these reasons, this variant has been classified as Pathogenic.

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