ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.*251A>T

dbSNP: rs2145658543
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939982 SCV002182497 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2022-02-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1427 of the SYNJ1 protein (p.Asn1427Ile). This variant has not been reported in the literature in individuals affected with SYNJ1-related conditions. 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.

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