ClinVar Miner

Submissions for variant NC_000012.11:g.(?_2794882)_(2800385_?)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 RCV000547576 SCV000627370 uncertain significance Long QT syndrome 2018-08-21 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 44-47 of the CACNA1C gene. The 5' boundary is likely confined to intron 43. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant is not present in population databases and has not been reported in the literature in individuals with a CACNA1C-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on CACNA1C protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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