ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) (rs202102042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344090 SCV001538126 uncertain significance Atrial fibrillation, familial, 6 2020-09-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 150 of the NPPA protein (p.Arg150Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs202102042, ExAC 0.2%). This variant has been observed in individual(s) with clinical features of autosomal recessive atrial dilated cardiomyopathy (PMID: 23275345). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 126846). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
OMIM RCV000114740 SCV000148623 pathogenic Atrial standstill 2 2013-02-01 no assertion criteria provided literature only

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