ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*41C>T

gnomAD frequency: 0.00004  dbSNP: rs570298309
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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 RCV001878084 SCV002162193 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-01-14 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This variant is present in population databases (rs570298309, gnomAD 0.03%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1357 of the SYNJ1 protein (p.Ser1357Leu).

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