ClinVar Miner

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

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Total submissions: 5
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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 likely pathogenic Fanconi anemia 2019-09-05 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000671284 SCV001142708 likely pathogenic Fanconi anemia, complementation group A 2019-05-30 criteria provided, single submitter clinical testing
OMIM RCV000671284 SCV000886137 pathogenic Fanconi anemia, complementation group A 2019-02-14 no assertion criteria provided literature only
Leiden Open Variation Database RCV000671284 SCV001425971 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Sue Richards.

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