ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3506T>C (p.Met1169Thr)

dbSNP: rs2151924528
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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 RCV001886073 SCV002146532 uncertain significance Fanconi anemia 2021-09-14 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1169 of the FANCI protein (p.Met1169Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. 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. This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This variant is not present in population databases (ExAC no frequency).

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