ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.-56_-55delinsAT

dbSNP: rs2043553723
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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 RCV001315357 SCV001505926 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2020-07-26 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with SYNJ1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces cysteine with tyrosine at codon 21 of the SYNJ1 protein (p.Cys21Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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