ClinVar Miner

Submissions for variant NC_000014.8:g.(?_37145383)_(37145677_?)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 RCV001300580 SCV001489724 uncertain significance Hypodontia 2020-10-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the PAX9 gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with PAX9-related conditions. This variant disrupts the C-terminus of the PAX9 protein. Other variant(s) that disrupt this region (p.Val265Argfs*52) have been observed in individuals with PAX9-related conditions (PMID: 11827258). This suggests that this may be a clinically significant region of the protein. 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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