ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)

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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 RCV003049185 SCV003340248 uncertain significance Fanconi anemia 2022-05-13 criteria provided, single submitter clinical testing 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 sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2 of the FANCL protein (p.Ala2Thr). This variant is present in population databases (rs144057264, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. 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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