ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1374_1377dup (p.Thr460fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV004701250 SCV005201105 likely pathogenic Neurodevelopmental disorder with or without autism or seizures criteria provided, single submitter clinical testing The CUL3 variant c.1392_1395dupAAAG p.(Thr466fs) creates a shift in the reading frame starting at codon 466 in exon(s) no. 9 (of 16). To the best of our knowledge, this is a novel variant not previously reported in the literature. It is classified as likely pathogenic based on ACMG/AMP/ClinGen SVI guidelines.

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