ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu)

gnomAD frequency: 0.00001  dbSNP: rs183778817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044918 SCV001208742 uncertain significance Fanconi anemia 2021-12-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 326 of the FANCD2 protein (p.Lys326Glu). This variant is present in population databases (rs183778817, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 842492). 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. 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.
GeneDx RCV001759764 SCV001986631 uncertain significance not provided 2020-07-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002497381 SCV002814937 uncertain significance Fanconi anemia complementation group D2 2022-04-25 criteria provided, single submitter clinical testing

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