ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) (rs139170018)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710243 SCV000232453 uncertain significance not provided 2017-06-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000195238 SCV000249082 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325682 SCV000461149 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382649 SCV000461150 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710243 SCV000615567 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000542729 SCV000649048 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 5042 of the SYNE1 protein (p.Val5042Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs139170018, ExAC 0.1%). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 28750076) and an infant affected with sudden infant death syndrome (PMID: 28074886). ClinVar contains an entry for this variant (Variation ID: 198681). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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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