ClinVar Miner

Submissions for variant NM_000266.4(NDP):c.385G>A (p.Glu129Lys)

gnomAD frequency: 0.00014  dbSNP: rs756474198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000441399 SCV000511848 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000441399 SCV000976781 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25182519)
Invitae RCV000441399 SCV001219172 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Peters anomaly (PMID: 25182519). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 129 of the NDP protein (p.Glu129Lys). This variant is present in population databases (rs756474198, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 377374). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NDP protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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