ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)

dbSNP: rs927630499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667724 SCV000792220 pathogenic Fanconi anemia complementation group A 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV002530721 SCV003442373 pathogenic Fanconi anemia 2022-06-21 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: 552462). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17924555, 30792206). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp957*) 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).
Baylor Genetics RCV000667724 SCV004196081 pathogenic Fanconi anemia complementation group A 2023-07-09 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000667724 SCV001425836 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter.

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