ClinVar Miner

Submissions for variant NC_000007.14:g.(?_128392911)_(128393755_?)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 RCV001033728 SCV001197035 likely pathogenic not provided 2022-03-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. A similar copy number variant has been observed in individuals with clinical features of IMPDH1-related conditions (Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 17 of the IMPDH1 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.

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