ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) (rs747892390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204633 SCV000259801 pathogenic Fanconi anemia 2019-06-23 criteria provided, single submitter clinical testing This sequence change deletes 14 nucleotides in exon 41 of the FANCA mRNA (c.4069_4082delGCTGTGGACATGTA), causing a frameshift at codon 1357. This creates a premature translational stop signal immediately upstream of the last exon of the FANCA mRNA (p.Ala1357Leufs*63). While this is not anticipated to result in nonsense mediated decay, it is expected to result in loss or alteration of the last 98 amino acid residues of the FANCA protein. This variant has been reported in a patient with Fanconi anemia (PMID: 9371798). In addition, a truncating variant in the last exon of FANCA has been reported to be pathogenic (PMID: 11091222), indicating that the amino acids in the last exon are essential for FANCA protein function. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000668440 SCV000793045 pathogenic Fanconi anemia, complementation group A 2017-07-26 criteria provided, single submitter clinical testing

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