ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.425G>C (p.Arg142Thr)

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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 RCV003636308 SCV004391683 uncertain significance Fanconi anemia 2023-04-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs756995764, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 142 of the FANCA protein (p.Arg142Thr). This variant has not been reported in the literature in individuals affected with FANCA-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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated.

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