ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)

dbSNP: rs878853666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001921935 SCV002153144 pathogenic Fanconi anemia 2023-09-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser251*) 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 Fanconi anemia (PMID: 29098742). ClinVar contains an entry for this variant (Variation ID: 1381374). For these reasons, this variant has been classified as Pathogenic.

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