ClinVar Miner

Submissions for variant NC_000003.11:g.(?_167506917)_(167508410_?)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 RCV004582175 SCV005066296 uncertain significance Familial encephalopathy with neuroserpin inclusion bodies 2023-07-09 criteria provided, single submitter clinical testing 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. This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the SERPINI1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SERPINI1 cause disease. This variant has not been reported in the literature in individuals affected with SERPINI1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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