Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000646144 | SCV000767901 | uncertain significance | Atrial fibrillation, familial, 6 | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp93Trpfs*13) in the NPPA gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NPPA cause disease. 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. ClinVar contains an entry for this variant (Variation ID: 537322). This variant has not been reported in the literature in individuals affected with NPPA-related conditions. This variant is present in population databases (rs774165756, gnomAD 0.02%). |