ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)

dbSNP: rs770393751
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224011 SCV001396184 pathogenic Fanconi anemia 2019-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1185*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). 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. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is present in population databases (rs770393751, ExAC 0.01%).

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