ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) (rs1064793405)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020169 SCV001181612 pathogenic Hereditary cancer-predisposing syndrome 2019-10-29 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV001210421 SCV001381907 pathogenic Fanconi anemia 2019-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp113*) 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 been observed in an individual affected with Fanconi anemia (PMID: 28717661). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV001195043 SCV001365314 pathogenic Fanconi anemia, complementation group C 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Daniela Pilonetto.

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