ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1353+5A>G

dbSNP: rs376825246
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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 RCV001217662 SCV001389511 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2020-10-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SYNJ1-related conditions. This variant is present in population databases (rs376825246, ExAC 0.002%). This sequence change falls in intron 11 of the SYNJ1 gene. It does not directly change the encoded amino acid sequence of the SYNJ1 protein, but it affects a nucleotide within the consensus splice site of the intron.

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