ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)

dbSNP: rs1438828232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667535 SCV000792004 pathogenic Fanconi anemia complementation group A 2017-06-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000667535 SCV002022304 pathogenic Fanconi anemia complementation group A 2020-02-13 criteria provided, single submitter clinical testing
Invitae RCV001868216 SCV002245821 pathogenic Fanconi anemia 2023-08-02 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: 552305). This premature translational stop signal has been observed in individual(s) with FANCA-related conditions (PMID: 22778927, 23613520). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg460*) 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 RCV000667535 SCV004196602 pathogenic Fanconi anemia complementation group A 2022-12-10 criteria provided, single submitter clinical testing

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