ClinVar Miner

Submissions for variant NC_000006.12:g.(?_10528892)_(10557362_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031320 SCV001194626 pathogenic Cataract 13 with adult I phenotype 2019-12-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the GCNT2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the GCNT2 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with GCNT2-related conditions. Loss-of-function variants in GCNT2 are known to be pathogenic (PMID: 15161861). For these reasons, this variant has been classified as Pathogenic.

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