ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.643_644del (p.Cys215fs)

dbSNP: rs1338138752
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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 RCV000525327 SCV000626213 pathogenic Fanconi anemia 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys215Leufs*4) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 30031030). ClinVar contains an entry for this variant (Variation ID: 456134). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000525327 SCV002090743 pathogenic Fanconi anemia 2021-04-02 no assertion criteria provided clinical testing

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