ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)

gnomAD frequency: 0.00003  dbSNP: rs201487756
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000370773 SCV000339880 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334395 SCV001527235 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-04-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731562 SCV001984598 uncertain significance not specified 2019-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855173 SCV002135868 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 286441). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs201487756, gnomAD 0.05%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 3596 of the SYNE1 protein (p.Thr3596Ile).
Revvity Omics, Revvity RCV000370773 SCV003826495 uncertain significance not provided 2019-03-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000370773 SCV005622023 uncertain significance not provided 2024-03-13 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Computational tools predict that this variant is not damaging.

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