ClinVar Miner

Submissions for variant NM_203446.2(SYNJ1):c.7A>C (p.Lys3Gln)

gnomAD frequency: 0.00004  dbSNP: rs1037328706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807790 SCV000947864 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3 of the SYNJ1 protein (p.Lys3Gln). This variant is not present in population databases (gnomAD no frequency). 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: 652266). 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: "Benign"; Align-GVGD: "Class C0"). 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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