ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.843+1G>C

dbSNP: rs587779909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673380 SCV000798577 likely pathogenic Fanconi anemia complementation group C 2018-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861820 SCV002256110 likely pathogenic Fanconi anemia 2021-06-06 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with breast cancer (PMID:30630526). ClinVar contains an entry for this variant (Variation ID: 557263). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 8 of the FANCC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCC are known to be pathogenic (PMID: 17924555).
Baylor Genetics RCV000673380 SCV004196662 likely pathogenic Fanconi anemia complementation group C 2023-08-04 criteria provided, single submitter clinical testing

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