ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*232C>T

gnomAD frequency: 0.00001  dbSNP: rs373563239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288851 SCV001476241 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871723 SCV002308270 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1421 of the SYNJ1 protein (p.Arg1421Trp). This variant is present in population databases (rs373563239, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. 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: 995023). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002541796 SCV003604999 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.4261C>T (p.R1421W) 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 4261, causing the arginine (R) at amino acid position 1421 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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