ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13851_13853TCT[1] (p.Leu4620del) (rs1085307610)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489279 SCV000576841 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SYNE1 gene. The c.13641_13643delTCT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.13641_13643delTCT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.13641_13643delTCT variant results in an in-frame deletion of a single Leucine residue, denoted p.Leu4549del. This variant occurs at a position that is conserved across species. However, in-frame deletions and duplications have not been reported in the Human Gene Mutation Database in association with SYNE1-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000647646 SCV000769444 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-08-03 criteria provided, single submitter clinical testing This variant, c.13641_13643delTCT, results in the deletion of 1 amino acid of the SYNE1 protein (p.Leu4549del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 426409). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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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