ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) (rs1060501885)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470873 SCV000547777 uncertain significance Fanconi anemia 2019-02-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 60 of the FANCA protein (p.Leu60Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. Therefore, it has been classified as a Variant of Uncertain Significance.

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