ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)

dbSNP: rs397514679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences 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

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