ClinVar Miner

Submissions for variant NM_001318852.2(MAPK8IP3):c.1402C>T (p.Gln468Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004766746 SCV005380327 pathogenic Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 2024-08-23 criteria provided, single submitter clinical testing Variant summary: MAPK8IP3 c.1399C>T (p.Gln467X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a known mechanism for disease (PMID 30612693). The variant was absent in 249338 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1399C>T in individuals affected with Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities (NEDBA) and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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