ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile)

dbSNP: rs760835706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647615 SCV000769413 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-02-05 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 2118 of the SYNE1 protein (p.Thr2118Ile). ClinVar contains an entry for this variant (Variation ID: 538378). This missense change has been observed in individual(s) with clinical features of SYNE1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). 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.
Eurofins Ntd Llc (ga) RCV000731371 SCV000859181 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing

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