ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2600A>G (p.His867Arg)

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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 RCV005381344 SCV006037233 uncertain significance not specified 2025-03-09 criteria provided, single submitter clinical testing The p.H867R variant (also known as c.2600A>G), located in coding exon 25 of the NEBL gene, results from an A to G substitution at nucleotide position 2600. The histidine at codon 867 is replaced by arginine, an amino acid with highly 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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