ClinVar Miner

Submissions for variant NM_001385012.1(NBEA):c.467A>C (p.Glu156Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004723733 SCV005329518 uncertain significance Neurodevelopmental disorder with or without early-onset generalized epilepsy 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.467A>C (p.Glu156Ala) in the NBEA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Glutamic acid at position 156 is changed to a Alanine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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