ClinVar Miner

Submissions for variant NC_000017.10:g.(?_2585003)_(2585096_?)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 RCV003111213 SCV003793231 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. A similar copy number variant has been observed in individual(s) with clinical features of lissencephaly (Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 11 of the PAFAH1B1 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 disrupts the C-terminus of the PAFAH1B1 protein. Other variant(s) that disrupt this region (p.Glu402*) have been observed in individuals with PAFAH1B1-related conditions (PMID: 17664403). 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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