ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)

dbSNP: rs1311396994
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234856 SCV001407516 pathogenic Fanconi anemia 2019-09-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu24*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant has not been reported in the literature in individuals with FANCA-related conditions.

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