ClinVar Miner

Submissions for variant NC_000006.12:g.(?_10556404)_(10626627_?)del

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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 RCV001031363 SCV001194669 pathogenic Cataract 13 with adult I phenotype 2019-10-03 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GCNT2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A similar deletion has been observed in an individual affected with adult i phenotype (PMID: 11739194). This gene is also known as IGNT in the literature. 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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