ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.96G>A (p.Met32Ile)

gnomAD frequency: 0.00001  dbSNP: rs770096593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338151 SCV001531791 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 71 of the SYNJ1 protein (p.Met71Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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