ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)

dbSNP: rs1057516488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409398 SCV000485763 likely pathogenic Fanconi anemia complementation group C 2016-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850946 SCV002242890 pathogenic Fanconi anemia 2024-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp506*) in the FANCC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 53 amino acid(s) of the FANCC protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 370437). This variant disrupts a region of the FANCC protein in which other variant(s) (p.Arg548*) have been determined to be pathogenic (PMID: 8103176, 8882868, 24584348). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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