ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2461+5G>T

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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 RCV002828974 SCV003213406 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-06-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 19 of the SYNJ1 gene. It does not directly change the encoded amino acid sequence of the SYNJ1 protein. It affects a nucleotide within the consensus splice site. This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. 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. Variants that disrupt 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 is not likely to affect RNA splicing.

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