ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)

gnomAD frequency: 0.00001  dbSNP: rs149903404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235766 SCV001408470 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 113 of the FANCA protein (p.Ser113Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs149903404, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FANCA-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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238327 SCV002010185 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001760248 SCV002776908 uncertain significance Fanconi anemia complementation group A 2022-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001235766 SCV002090779 uncertain significance Fanconi anemia 2020-05-04 no assertion criteria provided clinical testing

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