ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*521C>T

dbSNP: rs749527882
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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 RCV001867828 SCV002134202 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-08-24 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1369097). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This variant is present in population databases (rs749527882, gnomAD 0.008%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1517 of the SYNJ1 protein (p.Pro1517Leu). 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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