ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)

dbSNP: rs1380850249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630899 SCV000751872 likely pathogenic Fanconi anemia 2023-03-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 526377). This variant is also known as c.3602_3604del. This variant has been observed in individual(s) with Fanconi anemia (PMID: 17924555, 29098742). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This variant, c.3605_3607del, results in the deletion of 1 amino acid(s) of the FANCA protein (p.Glu1202del), but otherwise preserves the integrity of the reading frame.
Counsyl RCV000671321 SCV000796283 uncertain significance Fanconi anemia complementation group A 2017-12-18 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000671321 SCV001425851 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter.
Natera, Inc. RCV000630899 SCV002092519 likely pathogenic Fanconi anemia 2020-12-21 no assertion criteria provided clinical testing

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