ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2497A>G (p.Arg833Gly)

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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 RCV005385446 SCV006037215 uncertain significance not specified 2024-12-28 criteria provided, single submitter clinical testing The p.R833G variant (also known as c.2497A>G), located in coding exon 24 of the NEBL gene, results from an A to G substitution at nucleotide position 2497. The arginine at codon 833 is replaced by glycine, an amino acid with dissimilar 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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