ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) (rs373986283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664840 SCV000788858 uncertain significance Fanconi anemia, complementation group A 2017-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000664840 SCV000896587 uncertain significance Fanconi anemia, complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001246740 SCV001420120 uncertain significance Fanconi anemia 2019-01-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 1023 of the FANCA protein (p.Glu1023Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs373986283, ExAC 0.009%). This variant has been observed in an individual affected with breast cancer (PMID: 23021409). ClinVar contains an entry for this variant (Variation ID: 550170). 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.

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