ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1568C>T (p.Ala523Val)

dbSNP: rs1341949224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235992 SCV001408703 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2019-09-13 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. This variant has not been reported in the literature in individuals with SYN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with valine at codon 523 of the SYN1 protein (p.Ala523Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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