ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) (rs149146258)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756737 SCV000884632 likely benign not provided 2018-05-05 criteria provided, single submitter clinical testing The p.Arg2007Lys variant has not been reported in the medical literature, gene specific variation databases in association with any cardiac disorder, and has been identified by our laboratory in healthy individuals. This variant is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.25 percent and is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.15 percent (including 1 homozygote). The arginine at position 2007 is weakly conserved (considering 12 species, Alamut v2.7.1) and the same position in the orthologues genes of most fish and bird species is lysine. Computational analyses of the effects of the p.Arg2007Lys variant on protein structure and function indicate this is a benign variant (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Altogether, this variant has been classified as likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178473 SCV000230556 likely benign not specified 2015-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000178473 SCV000515922 likely benign not specified 2017-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000178473 SCV000597343 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309218 SCV000461455 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362586 SCV000461456 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000524575 SCV000649196 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-12-11 criteria provided, single submitter clinical testing

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