ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)

dbSNP: rs1554062562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624516 SCV000742447 pathogenic Inborn genetic diseases 2017-04-20 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV001030437 SCV001432985 likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2020-09-10 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Intellectual developmental disorder, autosomal dominant 44, with microcephaly. 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); Predicted nullvariant in a gene where LOF is a known mechanism of disease (PVS1 downgraded to strong).
Diagnostic Laboratory, Strasbourg University Hospital RCV001260792 SCV001437885 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
OMIM RCV001030437 SCV001193445 pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2020-03-31 no assertion criteria provided literature only

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