ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*763A>G

gnomAD frequency: 0.00001  dbSNP: rs778073626
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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 RCV001240169 SCV001413093 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2019-10-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SYNJ1-related conditions. This sequence change replaces threonine with alanine at codon 1598 of the SYNJ1 protein (p.Thr1598Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs778073626, ExAC 0.002%). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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