ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp)

dbSNP: rs1193547837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002039118 SCV002313753 uncertain significance Fanconi anemia 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 799 of the FANCD2 protein (p.Ala799Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably 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.
Fulgent Genetics, Fulgent Genetics RCV002486779 SCV002786249 uncertain significance Fanconi anemia complementation group D2 2021-12-07 criteria provided, single submitter clinical testing

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