ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.14T>C (p.Leu5Pro)

gnomAD frequency: 0.00001  dbSNP: rs1159900858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558372 SCV000626387 uncertain significance Fanconi anemia 2022-06-09 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 456282). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 5 of the FANCF protein (p.Leu5Pro).
Fulgent Genetics, Fulgent Genetics RCV002497057 SCV002812921 uncertain significance Fanconi anemia complementation group F 2021-09-02 criteria provided, single submitter clinical testing
GeneDx RCV003151784 SCV003840483 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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