ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs)

gnomAD frequency: 0.00001  dbSNP: rs949335475
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692516 SCV000820343 pathogenic Cataract 13 with adult I phenotype 2017-06-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GCNT2 are known to be pathogenic (PMID: 15161861). This variant has not been reported in the literature in individuals with GCNT2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys237Asnfs*19) in the GCNT2 gene. It is expected to result in an absent or disrupted protein product.

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