ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)

dbSNP: rs868620166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381966 SCV001580543 pathogenic Fanconi anemia 2020-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu244*) 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 not present in population databases (ExAC no frequency).

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