ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)

gnomAD frequency: 0.00001  dbSNP: rs911362591
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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 RCV001337508 SCV001531113 uncertain significance Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2020-03-19 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SYNJ1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 1042 of the SYNJ1 protein (p.Ala1042Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
3billion, Medical Genetics RCV001337508 SCV005328847 likely benign Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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