ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.4281+71G>A

gnomAD frequency: 0.00001  dbSNP: rs568997706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057635 SCV001222138 uncertain significance Fanconi anemia 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1451 of the FANCD2 protein (p.Ser1451Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The asparagine 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.

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