ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2215A>G (p.Lys739Glu)

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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 RCV005381332 SCV006035148 uncertain significance not specified 2024-12-14 criteria provided, single submitter clinical testing The p.K739E variant (also known as c.2215A>G), located in coding exon 22 of the NEBL gene, results from an A to G substitution at nucleotide position 2215. The lysine at codon 739 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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