ClinVar Miner

Submissions for variant NC_000010.10:g.(?_68280355)_(68280551_?)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 RCV000651979 SCV000773836 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2018-01-04 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 11 of the CTNNA3 gene. While the exact position of the duplicated exon cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CTNNA3-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CTNNA3 cause disease. 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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