ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.16ACC[2] (p.Thr8del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044604 SCV001208409 uncertain significance Atrial fibrillation, familial, 6 2020-09-29 criteria provided, single submitter clinical testing This variant, c.22_24del, results in the deletion of 1 amino acid(s) of the NPPA protein (p.Thr8del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772709966, ExAC 0.03%). This variant has not been reported in the literature in individuals with NPPA-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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