ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.2945T>C (p.Val982Ala)

dbSNP: rs2491367132
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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 RCV004524219 SCV005025220 uncertain significance not specified 2023-11-01 criteria provided, single submitter clinical testing The p.V982A variant (also known as c.2945T>C), located in coding exon 28 of the NEBL gene, results from a T to C substitution at nucleotide position 2945. The valine at codon 982 is replaced by alanine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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