ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*230C>T

dbSNP: rs763286771
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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 RCV003790998 SCV004582895 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-02-13 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1420 of the SYNJ1 protein (p.Ala1420Val). This variant is present in population databases (rs763286771, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions.
Ambry Genetics RCV005291038 SCV005952668 uncertain significance Inborn genetic diseases 2025-03-03 criteria provided, single submitter clinical testing The c.4259C>T (p.A1420V) alteration is located in exon 32 (coding exon 32) of the SYNJ1 gene. This alteration results from a C to T substitution at nucleotide position 4259, causing the alanine (A) at amino acid position 1420 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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