ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile)

dbSNP: rs1745368018
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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 RCV001256180 SCV001432991 likely pathogenic Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2020-09-10 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Intellectual developmental disorder, autosomal dominant 63, with macrocephaly. 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); 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); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (PM1); Well-established functional studies show a deleterious effect (PS3 downgraded to supporting).

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