ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1257C>G (p.Phe419Leu)

dbSNP: rs764140346
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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 RCV001919148 SCV002182165 uncertain significance Fanconi anemia 2021-04-28 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is present in population databases (rs764140346, ExAC 0.01%). This sequence change replaces phenylalanine with leucine at codon 419 of the FANCA protein (p.Phe419Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. 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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