ClinVar Miner

Submissions for variant NM_005639.3(SYT1):c.911A>G (p.Asp304Gly)

dbSNP: rs1565922395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Raymond Lab, University of Cambridge RCV000721123 SCV000852011 pathogenic SYT1-associated neurodevelopmental disorder 2018-07-01 criteria provided, single submitter research
SIB Swiss Institute of Bioinformatics RCV000735272 SCV000994932 likely pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 2019-02-18 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Baker-Gordon syndrome, autosomal dominant. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6: Assumed de novo, but without confirmation of paternity and maternity. PS3-Moderate: Well-established functional studies show a deleterious effect (downgraded to Moderate). 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. PP3: Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
OMIM RCV000735272 SCV000863520 pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 2018-12-12 no assertion criteria provided literature only

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