ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.577T>G (p.Phe193Val)

dbSNP: rs1554129925
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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 RCV000547277 SCV000653788 uncertain significance Cataract 13 with adult I phenotype 2017-02-25 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with valine at codon 193 of the GCNT2 protein (p.Phe193Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency) and 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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