ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) (rs1439817346)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667004 SCV000791390 uncertain significance Fanconi anemia, complementation group A 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV001241327 SCV001414339 uncertain significance Fanconi anemia 2019-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1128 of the FANCA protein (p.Gln1128Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Fanconi anemia (PMID: 9371798). ClinVar contains an entry for this variant (Variation ID: 551847). This variant has been reported to have conflicting or insufficient data to determine the effect on FANCA protein function (PMID: 16946016, 12444097). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Leiden Open Variation Database RCV000667004 SCV001425705 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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