ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys)

gnomAD frequency: 0.00005  dbSNP: rs570501803
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809591 SCV000949749 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 789 of the SYNJ1 protein (p.Asn789Lys). This variant is present in population databases (rs570501803, 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: 653769). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SYNJ1 protein function. 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 RCV002538056 SCV003739928 uncertain significance Inborn genetic diseases 2021-11-16 criteria provided, single submitter clinical testing The c.2367T>A (p.N789K) alteration is located in exon 18 (coding exon 18) of the SYNJ1 gene. This alteration results from a T to A substitution at nucleotide position 2367, causing the asparagine (N) at amino acid position 789 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV003483735 SCV004228976 not provided Developmental and epileptic encephalopathy, 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-06-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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