ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg)

dbSNP: rs759516610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001980557 SCV002272297 uncertain significance Fanconi anemia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 1070 of the FANCD2 protein (p.His1070Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. 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 (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.
Fulgent Genetics, Fulgent Genetics RCV002497974 SCV002779183 uncertain significance Fanconi anemia complementation group D2 2022-02-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV002497974 SCV004196716 uncertain significance Fanconi anemia complementation group D2 2023-10-12 criteria provided, single submitter clinical testing

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