ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.99C>G (p.Phe33Leu)

dbSNP: rs746651449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001904507 SCV002119812 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-06-07 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with SYNJ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 72 of the SYNJ1 protein (p.Phe72Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232687 SCV005879849 uncertain significance not provided 2024-11-14 criteria provided, single submitter clinical testing The SYNJ1 c.216C>G; p.Phe72Leu variant (rs746651449), to our knowledge, is not reported in individuals with epilepsy but is reported in ClinVar (Variation ID: 1359720). This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.699). Due to limited information, the clinical significance of this variant is uncertain at this time.

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