ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)

dbSNP: rs2039078843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067317 SCV001232371 pathogenic Fanconi anemia 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln881*) 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: 21273304, 29098742). ClinVar contains an entry for this variant (Variation ID: 860918). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001256594 SCV004196110 pathogenic Fanconi anemia complementation group A 2023-05-23 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256594 SCV001426086 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV001256594 SCV001452860 pathogenic Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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