ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*265C>A

gnomAD frequency: 0.00001  dbSNP: rs769312346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349070 SCV001543397 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 1432 of the SYNJ1 protein (p.Pro1432Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs769312346, ExAC 0.07%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003246914 SCV003943581 uncertain significance Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing The c.4294C>A (p.P1432T) alteration is located in exon 32 (coding exon 32) of the SYNJ1 gene. This alteration results from a C to A substitution at nucleotide position 4294, causing the proline (P) at amino acid position 1432 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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