ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.60del (p.Ile20fs)

gnomAD frequency: 0.00013  dbSNP: rs1184095219
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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 RCV000692059 SCV000819866 pathogenic Cataract 13 with adult I phenotype 2023-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile20Metfs*17) in the GCNT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCNT2 are known to be pathogenic (PMID: 21761136). 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: 571035). For these reasons, this variant has been classified as Pathogenic.

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