ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val)

gnomAD frequency: 0.00002  dbSNP: rs775110785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242296 SCV001415374 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 336 of the SYNJ1 protein (p.Ile336Val). This variant is present in population databases (rs775110785, gnomAD 0.004%). 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: 967394). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481021 SCV004225533 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing BP4

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