ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile)

gnomAD frequency: 0.00004  dbSNP: rs764903036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001909766 SCV002183814 uncertain significance Fanconi anemia 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 914 of the FANCD2 protein (p.Thr914Ile). This variant is present in population databases (rs764903036, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. 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: 1408038). 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 RCV002478355 SCV002785790 uncertain significance Fanconi anemia complementation group D2 2022-01-19 criteria provided, single submitter clinical testing

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