Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003407398 | SCV004114187 | pathogenic | SYN1-related condition | 2022-10-19 | criteria provided, single submitter | clinical testing | The SYN1 c.1663C>T variant is predicted to result in premature protein termination (p.Gln555*). This variant was reported in an individual with epilepsy (Fassio et al 2011. PubMed ID: 21441247; Lignani G et al 2013. PubMed ID: 23406870; Nguyen DK et al 2015. PubMed ID: 26096837; Cabana JF et al 2018. PubMed ID: 29671924). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SYN1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
OMIM | RCV000034815 | SCV000058377 | pathogenic | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2013-06-01 | no assertion criteria provided | literature only |