ClinVar Miner

Submissions for variant NC_000010.11:g.(?_66766254)_(66775534_?)del

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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 RCV000810687 SCV000950914 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2019-10-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 8 - 9 of the CTNNA3 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This in-frame deletion was reported in the literature in an individual affected with autism, but also in an unaffected family member (PMID: 25050139). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted exons is currently unknown. In summary, this is a rare in-frame deletion with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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