ClinVar Miner

Submissions for variant NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter)

dbSNP: rs2127444957
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001957678 SCV002212986 pathogenic Cataract 13 with adult I phenotype 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg332*) in the GCNT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the GCNT2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GCNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1437805). This variant disrupts a region of the GCNT2 protein in which other variant(s) (p.Tyr347Cys) have been determined to be pathogenic (PMID: 22935719, 25457163; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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