ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.197C>T (p.Pro66Leu)

gnomAD frequency: 0.00012  dbSNP: rs150794709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542702 SCV000647010 uncertain significance Atrial fibrillation, familial, 6 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 66 of the NPPA protein (p.Pro66Leu). This variant is present in population databases (rs150794709, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NPPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 469605). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002483456 SCV002786606 uncertain significance Atrial fibrillation, familial, 6; Atrial standstill 2 2022-02-21 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002483456 SCV003920301 uncertain significance Atrial fibrillation, familial, 6; Atrial standstill 2 2021-03-30 criteria provided, single submitter clinical testing NPPA NM_006172.3 exon 2 p.Pro66Leu (c.197C>T): This variant has not been reported in the literature and is present in 0.01% (20/127896) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-11907423-G-A). This variant is present in ClinVar (Variation ID:469605). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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