ClinVar Miner

Submissions for variant NM_015057.5(MYCBP2):c.1370_1372del (p.Glu457del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052307 SCV005685487 uncertain significance MYCBP2-related developmental delay with corpus callosum defects 2024-07-22 criteria provided, single submitter clinical testing The MYCBP2 c.1370_1372del (p.Glu457del) variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.0213% in the European non-Finnish population, however, no homozygotes were identified. This variant is predicted to cause a change in the length of the protein due to an in-frame deletion of one amino acid in a non-repeat region. Due to limited information, the clinical significance of this variant is uncertain.

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