ClinVar Miner

Submissions for variant NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) (rs1554616627)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000664047 SCV000787461 likely pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Neurodevelopmental disorder. 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). 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 (http://www.uniprot.org/uniprot/P61981#showFeaturesTable) (PMID:28777935). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.

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