ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.517G>A (p.Val173Met)

gnomAD frequency: 0.00006  dbSNP: rs756663722
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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 RCV001302794 SCV001492018 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 212 of the SYNJ1 protein (p.Val212Met). This variant is present in population databases (rs756663722, gnomAD 0.004%). 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: 1005847). 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"). 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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