ClinVar Miner

Submissions for variant NC_000002.11:g.(?_218999525)_(220435954_?)dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001955103 SCV002208768 uncertain significance Alacrima, achalasia, and intellectual disability syndrome 2022-09-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with GMPPA-related conditions. A copy number gain of the genomic region encompassing the full coding sequence of the GMPPA gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.
Labcorp Genetics (formerly Invitae), Labcorp RCV001962531 SCV002230236 uncertain significance Paroxysmal nonkinesigenic dyskinesia 2021-10-08 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the PNKD gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with PNKD-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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