ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) (rs1380850249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630899 SCV000751872 likely pathogenic Fanconi anemia 2018-12-14 criteria provided, single submitter clinical testing This variant, c.3605_3607delAAG, results in the deletion of 1 amino acid of the FANCA protein (p.Glu1202del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with symptoms consistent with Fanconi anemia (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant has also been observed in combination with another FANCA variant in individuals affected with Fanconi anemia (PMID: 17924555, 29098742). This variant is also known as c.3602_3604del in the literature. ClinVar contains an entry for this variant (Variation ID: 526377). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.
Counsyl RCV000671321 SCV000796283 uncertain significance Fanconi anemia, complementation group A 2017-12-18 criteria provided, single submitter clinical testing

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