ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu)

dbSNP: rs2069582666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799396 SCV001432864 likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy 2020-02-11 criteria provided, single submitter clinical testing The c.3894CA,p.Asp1298Glu missense variant in the NBEA gene has not been reported in the available literature. The variant is absent from the gnomAD database, indicating this is a rare allele. In silico tools, SIFT, PolyPhen, REVEL, and CADD predict conflicting evidence of pathogenicity [https://useast.ensembl.org/info/docs/tools/vep/index.html]. Based on the available evidence, the de novo c.3894C>A,p.Asp1298Glu variant in the NBEA gene is classified as likely pathogenic.

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