ClinVar Miner

Submissions for variant NM_203446.2(SYNJ1):c.24G>A (p.Trp8Ter)

dbSNP: rs1569147057
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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 RCV000697507 SCV000826122 pathogenic Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2018-05-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SYNJ1-related disease. This sequence change creates a premature translational stop signal (p.Trp8*) in the SYNJ1 gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. Loss-of-function variants in SYNJ1 are known to be pathogenic (PMID: 25316601, 27435091). For these reasons, this variant has been classified as Pathogenic.

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