ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) (rs769919783)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198937 SCV000254247 uncertain significance Fanconi anemia 2017-12-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1235 of the FANCA protein (p.Gln1235Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant has been observed in individuals affected with Fanconi Anemia (PMID: 15643609, Invitae). ClinVar contains an entry for this variant (Variation ID: 216278). 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, 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.
Fulgent Genetics,Fulgent Genetics RCV000765322 SCV000896582 uncertain significance Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing

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