ClinVar Miner

Submissions for variant NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu)

dbSNP: rs1363544084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991207 SCV001142584 uncertain significance EIF2AK2-related disorder 2016-09-23 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV001093622 SCV001468561 uncertain significance Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 2020-12-18 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, autosomal dominant The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); de novo variant (PS2 downgraded to moderate); Well-established functional studies show a deleterious effect (PS3 downgraded to supporting); Multiple lines of computational evidence suggest no impact on gene or gene product (BP4).
OMIM RCV001093622 SCV001250814 pathogenic Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 2022-02-10 no assertion criteria provided literature only

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