ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*769G>A

gnomAD frequency: 0.00001  dbSNP: rs762039918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002594915 SCV002950164 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-02-18 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This variant is present in population databases (rs762039918, gnomAD 0.04%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1600 of the SYNJ1 protein (p.Ala1600Thr).

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