ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1703T>C (p.Leu568Pro)

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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 RCV005381337 SCV006037221 uncertain significance not specified 2025-02-01 criteria provided, single submitter clinical testing The p.L568P variant (also known as c.1703T>C), located in coding exon 17 of the NEBL gene, results from a T to C substitution at nucleotide position 1703. The leucine at codon 568 is replaced by proline, 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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