ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys)

dbSNP: rs1553774967
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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 RCV000540311 SCV000642415 uncertain significance Familial encephalopathy with neuroserpin inclusion bodies 2017-05-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 281 of the SERPINI1 protein (p.Asn281Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SERPINI1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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