ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.867A>G (p.Glu289=)

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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 RCV003618677 SCV004435169 uncertain significance Familial encephalopathy with neuroserpin inclusion bodies 2023-03-10 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 sequence change affects codon 289 of the SERPINI1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SERPINI1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SERPINI1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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