ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) (rs1410356625)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666989 SCV000791373 likely pathogenic Fanconi anemia, complementation group C 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV001381636 SCV001580118 pathogenic Fanconi anemia 2020-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln473*) in the FANCC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 551836). Loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000666989 SCV001365339 pathogenic Fanconi anemia, complementation group C 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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