Submissions for variant NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002230746	SCV000931366	uncertain significance	Congenital primary aphakia; Anterior segment dysgenesis	2018-10-21	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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in a family with bilateral congenital cataracts (PMID: 27218149). ClinVar contains an entry for this variant (Variation ID: 372169). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 117 of the FOXE3 protein (p.Asn117Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine.
OMIM	RCV000412651	SCV000490242	pathogenic	Cataract 34 multiple types	2018-01-06	no assertion criteria provided	literature only

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