ClinVar Miner

Submissions for variant NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) (rs1554616628)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000505695 SCV000599981 pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 2017-09-19 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000505695 SCV000787485 likely pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Epileptic encephalopathy, early infantile, 56, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:28777935). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS4-Moderate => PS4 downgraded in strength to Moderate (PMID:28777935). PM1 => Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (PMID:28777935) (

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