ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.337A>C (p.Ile113Leu)

dbSNP: rs766158703
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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 RCV002028332 SCV002283364 uncertain significance Fanconi anemia 2021-10-07 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 present in population databases (rs766158703, ExAC 0.006%). This sequence change replaces isoleucine with leucine at codon 113 of the FANCI protein (p.Ile113Leu). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and leucine.

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