ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) (rs372254398)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671284 SCV000796245 uncertain significance Fanconi anemia, complementation group A 2017-12-07 criteria provided, single submitter clinical testing
Invitae RCV000803258 SCV000943121 uncertain significance Fanconi anemia 2018-12-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 880 of the FANCA protein (p.Arg880Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs372254398, ExAC 0.01%). This variant has been observed in individuals with Fanconi anemia (PMID: 21273304, 29098742, 16397136, 19367192, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has also been reported as c.2670G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 555460). This variant has been reported to affect FANCA protein function (PMID: 16397136, 21273304). 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.
OMIM RCV000671284 SCV000886137 pathogenic Fanconi anemia, complementation group A 2019-02-14 no assertion criteria provided literature only

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