ClinVar Miner

Submissions for variant NM_017668.3(NDE1):c.130C>T (p.Arg44Ter)

gnomAD frequency: 0.00002  dbSNP: rs747020521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449830 SCV001653131 uncertain significance not specified 2020-06-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg44X variant in NDE1 has been reported in 1 individual that carried a large deletion that included NDE1 and had severe microcephaly, agenesis of the corpus callosum, scalp rugae, and a fetal brain disruption (FBD)-like phenotype (Paciorkowski 2013 PMID: 23704059, Sajan 2013 PMID: 24098143) and was also identified in 1/15428 of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This nonsense variant leads to a premature termination codon at position 44, which is predicted to lead to a truncated or absent protein. However, the gene-disease association is moderate. In summary, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003900546 SCV004710424 pathogenic NDE1-related disorder 2024-01-29 no assertion criteria provided clinical testing The NDE1 c.130C>T variant is predicted to result in premature protein termination (p.Arg44*). This variant was reported in an individual with microcephaly and brain anomalies (Paciorkowski et al. 2013. PubMed ID: 23704059; Sajan et al. 2013. PubMed ID: 24098143). This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in NDE1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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