ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.21C>G (p.Ser7Arg)

dbSNP: rs200559825
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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 RCV001035382 SCV001198707 uncertain significance Fanconi anemia 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 7 of the FANCL protein (p.Ser7Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs200559825, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with FANCL-related conditions. 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. 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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