ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)

dbSNP: rs1363946483
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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 RCV003523063 SCV004279654 pathogenic Fanconi anemia 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 915871). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 33224012). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Cys80*) 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).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001255874 SCV005051767 likely pathogenic Fanconi anemia complementation group A 2024-02-01 criteria provided, single submitter curation
Baylor Genetics RCV001255874 SCV005057554 pathogenic Fanconi anemia complementation group A 2024-02-29 criteria provided, single submitter clinical testing
Istanbul Faculty of Medicine, Istanbul University RCV001255874 SCV001296379 likely pathogenic Fanconi anemia complementation group A 2020-03-17 no assertion criteria provided clinical testing Segregates in family
Leiden Open Variation Database RCV001255874 SCV001425620 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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