ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)

dbSNP: rs2041102320
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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. RCV001264296 SCV001442400 likely pathogenic Fanconi anemia complementation group A 2019-02-21 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001264296 SCV001976669 pathogenic Fanconi anemia complementation group A 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV001880078 SCV002170586 pathogenic Fanconi anemia 2022-01-03 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: 984286). This premature translational stop signal has been observed in individual(s) with hematologic abnormalities (PMID: 34008892). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly28*) 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 RCV001264296 SCV004196640 pathogenic Fanconi anemia complementation group A 2022-04-07 criteria provided, single submitter clinical testing

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