ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp)

gnomAD frequency: 0.00004  dbSNP: rs768520283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543652 SCV000626157 uncertain significance Fanconi anemia 2022-10-25 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 633 of the FANCA protein (p.Glu633Asp). This variant is present in population databases (rs768520283, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 456089). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002497049 SCV002783870 uncertain significance Fanconi anemia complementation group A 2022-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000543652 SCV002092665 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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