ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) (rs752735858)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544397 SCV000626177 uncertain significance Fanconi anemia 2017-06-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 987 of the FANCA protein (p.Ala987Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygote state in two siblings from a single family presenting with features consistent with Fanconi anemia (PMID: 21519011). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on FANCA function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000670654 SCV000795537 uncertain significance Fanconi anemia, complementation group A 2017-11-09 criteria provided, single submitter clinical testing

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