ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1100A>G (p.Asn367Ser)

gnomAD frequency: 0.00002  dbSNP: rs562660511
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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 RCV001870392 SCV002120335 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2021-08-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 406 of the SYNJ1 protein (p.Asn406Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs562660511, ExAC 0.01%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV004039605 SCV004961670 uncertain significance Inborn genetic diseases 2023-11-13 criteria provided, single submitter clinical testing The c.1217A>G (p.N406S) alteration is located in exon 9 (coding exon 9) of the SYNJ1 gene. This alteration results from a A to G substitution at nucleotide position 1217, causing the asparagine (N) at amino acid position 406 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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