ClinVar Miner

Submissions for variant NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala)

dbSNP: rs1554618767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000505697 SCV000787479 uncertain significance Developmental and epileptic encephalopathy, 56 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance, for Epileptic encephalopathy, early infantile, 56, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:28777935). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
OMIM RCV000505697 SCV000599982 pathogenic Developmental and epileptic encephalopathy, 56 2020-12-03 no assertion criteria provided literature only

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