ClinVar Miner

Submissions for variant NC_000012.12:g.(?_101747144)_(101796782_?)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 RCV001031983 SCV001195290 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2019-12-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). This variant has not been reported in the literature in individuals with GNPTAB-related conditions. This variant is a gross deletion of the genomic region encompassing exons 2-21 of the GNPTAB gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation.

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