ClinVar Miner

Submissions for variant NM_203446.2(SYNJ1):c.2T>G (p.Met1Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003045037 SCV003351245 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-05-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the SYNJ1 mRNA. The next in-frame methionine is located at codon 40. 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.

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