ClinVar Miner

Submissions for variant NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter)

gnomAD frequency: 0.00023  dbSNP: rs185805779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Computer Science, University of Waterloo RCV001376182 SCV001573233 pathogenic Cataract 13 with adult I phenotype 2021-05-06 criteria provided, single submitter clinical testing Evidence categories PVS1, PM2 and PM4 in ACMG guidelines. This stop-gained variant in gene GCNT2 leads to a premature termination codon NP_001361676.1:p.Trp5Ter and disrupts the whole protein.
PreventionGenetics, part of Exact Sciences RCV004756226 SCV005341652 uncertain significance GCNT2-related disorder 2024-05-10 no assertion criteria provided clinical testing The GCNT2 c.14G>A variant is predicted to result in premature protein termination (p.Trp5*). In the tissue specific transcript found within the lens of the eye (NM_001491.2), this variant is found within a non-coding region (c.-27499G>A). To our knowledge, this variant has not been documented in the literature. This variant is reported in 0.17% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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