ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) (rs117360770)

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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 RCV000713694 SCV000884633 uncertain significance not provided 2017-05-24 criteria provided, single submitter clinical testing The p.Leu3057Val variant (rs117360770) was reported in one patient with cerebellar ataxia, who also carried a frameshift mutation in the SYNE1 gene (Keogh, 2015), and further observed in one healthy control individual (Gonzalez-Garay, 2013). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.3 percent in the European Non-Finnish population (identified on 369 out of 126,526 chromosomes, including 2 homozygotes), and has been reported to the ClinVar database (Variation ID: 198014). The leucine at position 3,057 is moderately conserved and computational analyses of the effects of the p.Leu3057Val variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Leu3057Val variant with certainty.
Athena Diagnostics Inc RCV000713694 SCV000844321 likely benign not provided 2017-09-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179213 SCV000231423 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000179213 SCV000523963 likely benign not specified 2018-03-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000349953 SCV000461361 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388054 SCV000461362 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542842 SCV000649226 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-12-22 criteria provided, single submitter clinical testing

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