ClinVar Miner

Submissions for variant NC_000020.10:g.(?_60831241)_(62680869_?)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 RCV003107566 SCV003794554 uncertain significance Developmental and epileptic encephalopathy, 33 2022-09-30 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the EEF1A2 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. Isolated whole-gene copy number gains of EEF1A2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 25921748). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003122564 SCV003796905 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-09-30 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the KCNQ2 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. Isolated whole-gene copy number gains of KCNQ2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 24811917, 25921748, 30866059). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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