ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066000 SCV001230993 likely pathogenic Fanconi anemia 2019-01-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 936 of the FANCA protein (p.Glu936Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs766643461, ExAC 0.02%). This variant has been observed in individuals with Fanconi anemia (PMID: 15643609, 17924555). 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 been reported to affect FANCA mRNA splicing, but data supporting this observation was not presented (PMID: 17924555). 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.
Leiden Open Variation Database RCV001256277 SCV001425691 pathogenic Fanconi anemia, complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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