ClinVar Miner

Submissions for variant NC_000012.11:g.(?_124192131)_(124192260_?)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 RCV001919104 SCV002186808 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-07-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18 of the TCTN2 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with TCTN2-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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