ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.286G>C (p.Val96Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002436976 SCV002747063 uncertain significance Inborn genetic diseases 2019-03-21 criteria provided, single submitter clinical testing The p.V96L variant (also known as c.286G>C), located in coding exon 3 of the PNKP gene, results from a G to C substitution at nucleotide position 286. The valine at codon 96 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255767 SCV001432365 likely pathogenic Microcephaly, seizures, and developmental delay no assertion criteria provided clinical testing

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