ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)

dbSNP: rs1184639006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666393 SCV000790678 pathogenic Fanconi anemia complementation group A 2017-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530683 SCV002976221 pathogenic Fanconi anemia 2022-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 551354). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 21273304). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln240*) 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 RCV000666393 SCV004196061 pathogenic Fanconi anemia complementation group A 2023-08-09 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000666393 SCV001425632 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto, Johan de Winter.

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