ClinVar Miner

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

dbSNP: rs2039078843
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067317 SCV001232371 pathogenic Fanconi anemia 2024-11-03 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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
Fulgent Genetics, Fulgent Genetics RCV001256594 SCV005644465 pathogenic Fanconi anemia complementation group A 2024-02-07 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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