ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.337A>G (p.Ser113Gly)

gnomAD frequency: 0.00001  dbSNP: rs756271433
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242256 SCV001415329 uncertain significance Atrial fibrillation, familial, 6 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 113 of the NPPA protein (p.Ser113Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs756271433, ExAC 0.002%). This variant has not been reported in the literature in individuals with NPPA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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