ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs)

dbSNP: rs1727413504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227722 SCV001400092 uncertain significance Familial encephalopathy with neuroserpin inclusion bodies 2023-05-22 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. ClinVar contains an entry for this variant (Variation ID: 955135). This variant has not been reported in the literature in individuals affected with SERPINI1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu23Serfs*11) in the SERPINI1 gene. 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.

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