ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)

gnomAD frequency: 0.00001  dbSNP: rs772858764
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668648 SCV000793282 pathogenic Fanconi anemia complementation group A 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001211107 SCV001382631 pathogenic Fanconi anemia 2024-06-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys34*) 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 present in population databases (rs772858764, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 15643609, 22778927). ClinVar contains an entry for this variant (Variation ID: 553243). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000668648 SCV002797816 pathogenic Fanconi anemia complementation group A 2022-04-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668648 SCV004196078 pathogenic Fanconi anemia complementation group A 2024-03-21 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000668648 SCV001426016 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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