ClinVar Miner

Submissions for variant NM_001122752.2(SERPINI1):c.980A>T (p.Asp327Val)

dbSNP: rs748148345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003375726 SCV004086687 uncertain significance Inborn genetic diseases 2023-06-30 criteria provided, single submitter clinical testing The c.980A>T (p.D327V) alteration is located in exon 7 (coding exon 6) of the SERPINI1 gene. This alteration results from a A to T substitution at nucleotide position 980, causing the aspartic acid (D) at amino acid position 327 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104140 SCV005753555 uncertain significance Familial encephalopathy with neuroserpin inclusion bodies 2024-05-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 327 of the SERPINI1 protein (p.Asp327Val). This variant is present in population databases (rs748148345, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SERPINI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2609121). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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