ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1106G>A (p.Ser369Asn)

gnomAD frequency: 0.00006  dbSNP: rs147544792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706776 SCV000835846 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 408 of the SYNJ1 protein (p.Ser408Asn). This variant is present in population databases (rs147544792, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 582650). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002532850 SCV003731792 uncertain significance Inborn genetic diseases 2022-02-24 criteria provided, single submitter clinical testing The c.1223G>A (p.S408N) alteration is located in exon 9 (coding exon 9) of the SYNJ1 gene. This alteration results from a G to A substitution at nucleotide position 1223, causing the serine (S) at amino acid position 408 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003884712 SCV004699885 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing SYNJ1: PM2, BP4

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