ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.766C>A (p.Gln256Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004654674 SCV005146344 uncertain significance not specified 2024-04-04 criteria provided, single submitter clinical testing The p.Q256K variant (also known as c.766C>A), located in coding exon 8 of the NEBL gene, results from a C to A substitution at nucleotide position 766. The glutamine at codon 256 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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