ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.-47G>C

gnomAD frequency: 0.00010  dbSNP: rs1018405878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038796 SCV001202290 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-04-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 837456). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 24 of the SYNJ1 protein (p.Arg24Thr).
Ambry Genetics RCV002553047 SCV003539889 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.71G>C (p.R24T) alteration is located in exon 1 (coding exon 1) of the SYNJ1 gene. This alteration results from a G to C substitution at nucleotide position 71, causing the arginine (R) at amino acid position 24 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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