ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.856T>C (p.Phe286Leu)

gnomAD frequency: 0.00011  dbSNP: rs752120549
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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 RCV001361350 SCV001557324 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 phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 325 of the SYNJ1 protein (p.Phe325Leu). This variant is present in population databases (rs752120549, gnomAD 0.03%). 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: 1053057). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Ambry Genetics RCV004671369 SCV005165941 uncertain significance Inborn genetic diseases 2024-04-12 criteria provided, single submitter clinical testing The c.973T>C (p.F325L) alteration is located in exon 8 (coding exon 8) of the SYNJ1 gene. This alteration results from a T to C substitution at nucleotide position 973, causing the phenylalanine (F) at amino acid position 325 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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