ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met)

gnomAD frequency: 0.00011  dbSNP: rs375577011
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530488 SCV000649013 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-29 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 3795 of the SYNE1 protein (p.Thr3795Met). This variant is present in population databases (rs375577011, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 470991). 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.
Eurofins Ntd Llc (ga) RCV000729288 SCV000856935 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000530488 SCV000897275 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000729288 SCV003824555 uncertain significance not provided 2020-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000729288 SCV003933337 uncertain significance not provided 2023-12-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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