ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)

dbSNP: rs1598184500
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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 RCV000803115 SCV000942976 pathogenic Fanconi anemia 2018-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp183*) 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). This variant has been observed together with another FANCA variant in an individual affected with Fanconi anemia (PMID: 24584348). This variant is not present in population databases (ExAC no frequency).
Natera, Inc. RCV000803115 SCV002090754 pathogenic Fanconi anemia 2021-08-11 no assertion criteria provided clinical testing

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