ClinVar Miner

Submissions for variant NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr)

dbSNP: rs1554139314
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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 RCV000558209 SCV000653786 uncertain significance Cataract 13 with adult I phenotype 2017-06-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 365 of the GCNT2 protein (p.Lys365Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a GCNT2-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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on GCNT2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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