ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*719CT[1]

dbSNP: rs1236484854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228026 SCV001400407 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1584Alafs*18) in the SYNJ1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the SYNJ1 protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 955394). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002563127 SCV003556148 uncertain significance Inborn genetic diseases 2023-09-27 criteria provided, single submitter clinical testing Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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