ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1226-2A>G (rs773906241)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507098 SCV000603556 pathogenic not specified 2017-04-10 criteria provided, single submitter clinical testing
Counsyl RCV000667573 SCV000792050 likely pathogenic Fanconi anemia, complementation group A 2017-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000667573 SCV000894104 likely pathogenic Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000701341 SCV000830138 pathogenic Fanconi anemia 2018-10-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the FANCA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs773906241, ExAC 0.03%). This variant has been observed in individuals affected with Fanconi anemia (PMID: 29098742, Invitae). ClinVar contains an entry for this variant (Variation ID: 439688). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.

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