ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu)

gnomAD frequency: 0.00001  dbSNP: rs770940749
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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 RCV001981242 SCV002280811 uncertain significance Cataract 13 with adult I phenotype 2021-05-27 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GCNT2-related conditions. This variant is present in population databases (rs770940749, ExAC 0.006%). This sequence change replaces lysine with glutamic acid at codon 135 of the GCNT2 protein (p.Lys135Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.
Ambry Genetics RCV004045379 SCV004875029 uncertain significance Inborn genetic diseases 2021-09-28 criteria provided, single submitter clinical testing The c.403A>G (p.K135E) alteration is located in exon 1 (coding exon 1) of the GCNT2 gene. This alteration results from a A to G substitution at nucleotide position 403, causing the lysine (K) at amino acid position 135 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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