ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)

dbSNP: rs781436006
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783242 SCV002022286 pathogenic Fanconi anemia complementation group A 2019-01-08 criteria provided, single submitter clinical testing
Invitae RCV002034561 SCV002235368 pathogenic Fanconi anemia 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu715*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is present in population databases (rs781436006, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with squamous cell lung carcinoma (PMID: 29625052). ClinVar contains an entry for this variant (Variation ID: 1322867). For these reasons, this variant has been classified as Pathogenic.

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