ClinVar Miner

Submissions for variant NM_003647.3(DGKE):c.1A>T (p.Met1Leu)

dbSNP: rs1906465563
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328196 SCV001449314 likely pathogenic Atypical hemolytic-uremic syndrome 2017-04-24 no assertion criteria provided clinical testing This individual is homozygous for the c.1A>T variant in the DGKE gene. The variant has not been reported in any population databases (i.e. ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any variant databases. This variant abolishes the translational initiation codon of the DGKE gene, and is likely to result in haploinsufficiency. This variant is considered to be likely pathogenic according to ACMG guidelines

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