ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2874+5G>A

gnomAD frequency: 0.00024  dbSNP: rs371765751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552019 SCV000660136 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997819 SCV001153541 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000997819 SCV001764853 uncertain significance not provided 2021-04-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Ambry Genetics RCV002526762 SCV003553086 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The c.2991+5G>A intronic alteration consists of a G to A substitution nucleotides after coding exon 22 in the SYNJ1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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