ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.125-17A>G

gnomAD frequency: 0.00024  dbSNP: rs113560074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002076922 SCV002328136 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003120806 SCV003800951 uncertain significance not specified 2023-01-12 criteria provided, single submitter clinical testing Variant summary: SYNJ1 c.242-17A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8.1e-05 in 235532 control chromosomes. This frequency does not allow conclusions about variant significance. To our knowledge, no occurrence of c.242-17A>G in individuals affected with SYNJ1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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