ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp)

dbSNP: rs1876920040
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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 RCV001255193 SCV001571392 likely pathogenic Intellectual developmental disorder with seizures and language delay 2021-04-13 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Intellectual developmental disorder with seizures and language delay, 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 (paternity and maternity confirmed) (PS2); Prevalence in affected individuals statistically increased over controls (PS4 downgraded to supporting); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2).
OMIM RCV001255193 SCV001431547 pathogenic Intellectual developmental disorder with seizures and language delay 2020-09-03 no assertion criteria provided literature only

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