ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1944del (p.Glu648fs)

gnomAD frequency: 0.00001  dbSNP: rs1555549451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671285 SCV000796246 likely pathogenic Fanconi anemia complementation group A 2017-12-08 criteria provided, single submitter clinical testing
Invitae RCV001383586 SCV001582778 pathogenic Fanconi anemia 2020-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant has been observed in individual(s) with Fanconi anemia (PMID: 9371798). ClinVar contains an entry for this variant (Variation ID: 555461). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu648Aspfs*13) in the FANCA gene. It is expected to result in an absent or disrupted protein product.
MGZ Medical Genetics Center RCV000671285 SCV002580285 likely pathogenic Fanconi anemia complementation group A 2021-12-27 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000671285 SCV001425940 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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