ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*704C>G

gnomAD frequency: 0.00003  dbSNP: rs367591704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225929 SCV001398223 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 1578 of the SYNJ1 protein (p.Pro1578Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs367591704, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. 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: "Probably 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 RCV003163760 SCV003888891 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.4733C>G (p.P1578R) alteration is located in exon 32 (coding exon 32) of the SYNJ1 gene. This alteration results from a C to G substitution at nucleotide position 4733, causing the proline (P) at amino acid position 1578 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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