ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*173C>T

dbSNP: rs1341548536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554414 SCV000660153 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1401 of the SYNJ1 protein (p.Thr1401Met). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 478353). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions.
Ambry Genetics RCV004024436 SCV004961684 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.4202C>T (p.T1401M) 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 4202, causing the threonine (T) at amino acid position 1401 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004808784 SCV005433421 uncertain significance not provided 2024-09-01 criteria provided, single submitter clinical testing SYNJ1: PM2

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