ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)

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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 RCV003050495 SCV003442565 uncertain significance Fanconi anemia 2021-12-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 958 of the FANCI protein (p.Gln958Glu). This variant is present in population databases (rs372553903, gnomAD 0.0009%). This missense change has been observed in individual(s) with breast cancer (PMID: 30303537). 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.

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