ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003108462 SCV003780628 pathogenic Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu33*) 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: 2414627). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004572846 SCV005057581 pathogenic Fanconi anemia complementation group A 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV004572846 SCV005639587 pathogenic Fanconi anemia complementation group A 2024-06-07 criteria provided, single submitter clinical testing

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