ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) (rs1060501881)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671841 SCV000796868 uncertain significance Fanconi anemia, complementation group A 2018-01-03 criteria provided, single submitter clinical testing
Invitae RCV000459195 SCV000547767 uncertain significance Fanconi anemia 2017-04-27 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides from exon 2 of the FANCA mRNA (c.168_173delCCTGAA). This leads to the deletion of 2 amino acid residues in the FANCA protein (p.Leu57_Asn58del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 408192). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this is a rare in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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