ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp)

gnomAD frequency: 0.00001  dbSNP: rs200482511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224655 SCV001396869 uncertain significance Familial encephalopathy with neuroserpin inclusion bodies 2023-08-18 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SERPINI1 protein function. ClinVar contains an entry for this variant (Variation ID: 952532). This variant has not been reported in the literature in individuals affected with SERPINI1-related conditions. This variant is present in population databases (rs200482511, gnomAD 0.02%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 345 of the SERPINI1 protein (p.Asn345Asp).

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