ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn)

gnomAD frequency: 0.00003  dbSNP: rs748391280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244917 SCV001418170 uncertain significance Epilepsy, familial focal, with variable foci 3 2023-03-04 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 61 of the NPRL3 protein (p.Asp61Asn). This variant has not been reported in the literature in individuals affected with NPRL3-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPRL3 protein function. ClinVar contains an entry for this variant (Variation ID: 969542).
Revvity Omics, Revvity Omics RCV001244917 SCV003814134 uncertain significance Epilepsy, familial focal, with variable foci 3 2020-11-20 criteria provided, single submitter clinical testing

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