ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met)

gnomAD frequency: 0.00004  dbSNP: rs775898191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550015 SCV000626478 uncertain significance Fanconi anemia 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1351 of the FANCD2 protein (p.Thr1351Met). This variant is present in population databases (rs775898191, gnomAD 0.009%). 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: 456359). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237893 SCV002011255 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001770410 SCV002814036 uncertain significance Fanconi anemia complementation group D2 2022-04-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003237893 SCV004146912 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing FANCD2: BP4

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