ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val)

dbSNP: rs2040918972
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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 RCV001215540 SCV001387291 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 693 of the SYNJ1 protein (p.Ala693Val). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 945015). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions.

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