ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.128A>C (p.His43Pro)

gnomAD frequency: 0.00001  dbSNP: rs761221734
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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 RCV000695994 SCV000824535 uncertain significance Fanconi anemia 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 43 of the FANCF protein (p.His43Pro). This variant is present in population databases (rs761221734, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with FANCF-related conditions. ClinVar contains an entry for this variant (Variation ID: 574144). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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