ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)

gnomAD frequency: 0.00003  dbSNP: rs768851109
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525450 SCV000626187 uncertain significance Fanconi anemia 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1129 of the FANCA protein (p.Asp1129His). This variant is present in population databases (rs768851109, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of Fanconi Anemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 456114). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Genetic Services Laboratory, University of Chicago RCV001821479 SCV002066207 uncertain significance not specified 2018-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476090 SCV002797548 uncertain significance Fanconi anemia complementation group A 2021-07-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000525450 SCV002092531 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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