ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val)

gnomAD frequency: 0.00002  dbSNP: rs777790535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307112 SCV001496507 uncertain significance Epilepsy, familial focal, with variable foci 3 2020-04-01 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with NPRL3-related conditions. This variant is present in population databases (rs777790535, ExAC 0.02%). This sequence change replaces alanine with valine at codon 302 of the NPRL3 protein (p.Ala302Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
New York Genome Center RCV001307112 SCV001815680 uncertain significance Epilepsy, familial focal, with variable foci 3 2020-09-23 criteria provided, single submitter clinical testing The inherited c.905C>T, p.Ala302Val missense variant identified in the NPRL3 gene has not been reported in the literature. This variant has been reported in five individuals in the gnomAD v2.1 database, indicating this is not a common benign variant and in silico analysis predicts a deleterious effect (PMID:27268795). Based on the available evidence, the inherited variant c.905C>T, p.Ala302Val in the NPRL3 gene is classified as a Variant of Uncertain Significance.
GenomeConnect - Brain Gene Registry RCV001307112 SCV002548535 not provided Epilepsy, familial focal, with variable foci 3 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-17-2020 by Lab or GTR ID New York Genome Center. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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