ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr)

gnomAD frequency: 0.01129  dbSNP: rs58036849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514953 SCV000610143 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083506 SCV000656694 benign Epilepsy, familial focal, with variable foci 3 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000514953 SCV001794782 likely benign not provided 2021-08-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016) In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function Has not been previously published as pathogenic or benign to our knowledge Observed in heterozygous state in multiple clinically unaffected adult relatives of individuals referred for genetic testing at GeneDx, suggesting the variant is benign
Breakthrough Genomics, Breakthrough Genomics RCV000514953 SCV005216310 likely benign not provided criteria provided, single submitter not provided

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