ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) (rs141464488)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176771 SCV000228485 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000176771 SCV000249089 likely benign not specified 2016-09-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341957 SCV000461527 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380538 SCV000461528 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000176771 SCV000514830 likely benign not specified 2017-11-24 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.
Athena Diagnostics Inc RCV000710256 SCV000615656 benign not provided 2018-10-29 criteria provided, single submitter clinical testing
Invitae RCV000710256 SCV000649165 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710256 SCV000884643 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing The p.Val1070Ala variant (rs141464488) was reported in one patient with a case of sporadic cerebellar ataxia who carried a second nonsense variant (Fogel 2014). This variant however, is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.4 percent in the European Non-Finnish population (identified on 561 out of 126,572 chromosomes, including 1 homozygote) and has been reported to the ClinVar database as likely benign (Variation ID: 1960474). The valine at position 1070 is weakly conserved considering 12 species (Alamut v2.11) and computational analyses of the p.Val1070Ala variant on protein structure and function indicate a neutral effect (SIFT: tolerated, PolyPhen-2: benign). Altogether the p.Val1070Ala variant is considered to be likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710256 SCV001154963 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing

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