ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.371C>T (p.Thr124Ile)

gnomAD frequency: 0.00004  dbSNP: rs1339768860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594619 SCV000704897 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622748 SCV000742017 uncertain significance Inborn genetic diseases 2016-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000707123 SCV000836206 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-10-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 124 of the SYN1 protein (p.Thr124Ile). This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SYN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 499415). 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. 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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