ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3858C>A (p.His1286Gln)

dbSNP: rs761705192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465934 SCV000547736 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 1286 of the FANCA protein (p.His1286Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. 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. 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.
Natera, Inc. RCV000465934 SCV002092497 uncertain significance Fanconi anemia 2020-12-02 no assertion criteria provided clinical testing

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