ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.565G>A (p.Ala189Thr)

gnomAD frequency: 0.00002  dbSNP: rs2057893188
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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 RCV001065273 SCV001230228 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-07-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 189 of the SYN1 protein (p.Ala189Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SYN1-related conditions (PMID: 33057194, 35982159). ClinVar contains an entry for this variant (Variation ID: 859212). 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 disruptive. 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.

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