ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His)

dbSNP: rs777815557
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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 RCV001244206 SCV001417410 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2020-11-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 959 of the SYNJ1 protein (p.Gln959His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. 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 C0"). This variant has not been reported in the literature in individuals with SYNJ1-related conditions. This variant is present in population databases (rs777815557, ExAC 0.002%).
Ambry Genetics RCV004034772 SCV004961677 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.2877G>C (p.Q959H) alteration is located in exon 21 (coding exon 21) of the SYNJ1 gene. This alteration results from a G to C substitution at nucleotide position 2877, causing the glutamine (Q) at amino acid position 959 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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