ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)

dbSNP: rs587778319
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386991 SCV001587455 pathogenic Fanconi anemia 2022-07-27 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: 134273). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1265*) 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 RCV003460851 SCV004196573 likely pathogenic Fanconi anemia complementation group A 2023-03-14 criteria provided, single submitter clinical testing
ITMI RCV000120946 SCV000085114 not provided not specified 2013-09-19 no assertion provided reference population

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