ClinVar Miner

Submissions for variant NC_000019.9:g.(?_12760717)_(12761046_?)dup

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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 RCV003111373 SCV003794185 likely pathogenic Deficiency of alpha-mannosidase 2022-09-13 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 17-18 of the MAN2B1 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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