ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala)

dbSNP: rs2054122961
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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 RCV001886039 SCV002146464 uncertain significance Fanconi anemia 2021-09-21 criteria provided, single submitter clinical testing 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). This sequence change replaces threonine with alanine at codon 733 of the FANCI protein (p.Thr733Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine.

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