ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.986C>T (p.Thr329Met)

dbSNP: rs2057777813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001200882 SCV001371787 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2020-01-06 criteria provided, single submitter clinical testing This SYN1 variant is absent from a large population dataset, and has not been reported in the literature to our knowledge. Three bioinformatic tools queried predict that this substitution would be possibly damaging, and the threonine residue at this position is evolutionarily conserved across the vertebrates assessed. Additionally, bioinformatic analysis predicts that this variant would not affect normal exon 8 splicing, although this has not been confirmed experimentally to our knowledge. This substitution does not occur in a functional domain of the SYN1 protein where other disease associated variants are located. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.986C>T to be uncertain at this time.
Institute for Human Genetics, University Hospital Essen RCV002508155 SCV002558867 likely pathogenic Intellectual disability, X-linked 50 2022-07-30 criteria provided, single submitter clinical testing

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