ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3634G>A (p.Ala1212Thr)

gnomAD frequency: 0.00004  dbSNP: rs769125182
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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 RCV000800705 SCV000940435 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-11-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1251 of the SYNJ1 protein (p.Ala1251Thr). This variant is present in population databases (rs769125182, gnomAD 0.01%). 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: 646428). 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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