ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)

gnomAD frequency: 0.00005  dbSNP: rs374866393
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735139 SCV000863340 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000813915 SCV000954299 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 732 of the SYNE1 protein (p.Thr732Met). 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. ClinVar contains an entry for this variant (Variation ID: 598683). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs374866393, gnomAD 0.01%).
Athena Diagnostics RCV000735139 SCV002771367 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000735139 SCV003826388 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing

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