ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) (rs1554827159)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668283 SCV000792857 likely pathogenic Fanconi anemia, complementation group C 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV001225609 SCV001397893 pathogenic Fanconi anemia 2019-08-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FANCC gene (p.Glu517Asnfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acids of the FANCC protein. 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: 552933). This variant disrupts the C-terminus of the FANCC protein. Other variant(s) that disrupt this region (p.Arg548*) have been determined to be pathogenic (PMID: 8103176, 8882868, 24584348). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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