ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.377G>A (p.Arg126Gln)

gnomAD frequency: 0.00005  dbSNP: rs1803268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303284 SCV001492524 uncertain significance Atrial fibrillation, familial, 6 2022-10-15 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with NPPA-related conditions (PMID: 33268848). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 126 of the NPPA protein (p.Arg126Gln). This variant is present in population databases (rs1803268, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 872949). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Myllykangas group, University of Helsinki RCV001263186 SCV001250698 uncertain significance Vascular dementia 2020-04-01 no assertion criteria provided research

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