ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003622963 SCV004432164 pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2023-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SYN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln532*) in the SYN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYN1 are known to be pathogenic (PMID: 14985377, 21441247).

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