ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)

dbSNP: rs2040853392
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001256339 SCV001442275 likely pathogenic Fanconi anemia complementation group A 2020-03-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001256339 SCV004196613 pathogenic Fanconi anemia complementation group A 2022-10-15 criteria provided, single submitter clinical testing
Invitae RCV003635948 SCV004517519 pathogenic Fanconi anemia 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg142*) 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 variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 974097). 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.
Leiden Open Variation Database RCV001256339 SCV001425767 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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