ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2786del (p.Tyr929fs)

gnomAD frequency: 0.00001  dbSNP: rs779480428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040068 SCV001203623 pathogenic Fanconi anemia 2021-12-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 838509). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (rs779480428, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Tyr929Serfs*60) 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).
CeGaT Center for Human Genetics Tuebingen RCV003886469 SCV004703801 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing FANCA: PVS1, PM2

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