ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.671C>A (p.Thr224Lys)

dbSNP: rs779439089
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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 RCV001949201 SCV002210813 uncertain significance Fanconi anemia 2021-07-24 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. Experimental studies have shown that this variant affects FANCL protein function (PMID: 32420600). 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 FANCL-related conditions. This variant is present in population databases (rs779439089, ExAC 0.01%). This sequence change replaces threonine with lysine at codon 224 of the FANCL protein (p.Thr224Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine.

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