ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)

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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 RCV003077489 SCV003463239 uncertain significance Fanconi anemia 2022-08-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs575204533, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 718 of the FANCD2 protein (p.Gln718Leu). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. 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. 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.

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