ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.347G>A (p.Arg116Lys)

gnomAD frequency: 0.00001  dbSNP: rs745922613
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871167 SCV002144381 uncertain significance Atrial fibrillation, familial, 6 2023-01-22 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1376005). This missense change has been observed in individual(s) with clinical features of NPPA-related conditions (PMID: 30847666). This variant is present in population databases (rs745922613, gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 116 of the NPPA protein (p.Arg116Lys).

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