ClinVar Miner

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

gnomAD frequency: 0.00008  dbSNP: rs373986283
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Total submissions: 4
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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 2022-02-02 criteria provided, single submitter clinical testing
Invitae RCV001246740 SCV001420120 uncertain significance Fanconi anemia 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1023 of the FANCA protein (p.Glu1023Asp). This variant is present in population databases (rs373986283, gnomAD 0.008%). This missense change has been observed in individual(s) with breast cancer (PMID: 23021409). ClinVar contains an entry for this variant (Variation ID: 550170). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Natera, Inc. RCV001246740 SCV002092561 uncertain significance Fanconi anemia 2020-01-02 no assertion criteria provided clinical testing

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