ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) (rs139834542)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713653 SCV000333860 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304397 SCV000460871 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363295 SCV000460872 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000364185 SCV000525164 likely benign not specified 2017-11-15 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.
Invitae RCV000713653 SCV000649154 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713653 SCV000844280 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000713653 SCV000884648 uncertain significance not provided 2018-05-05 criteria provided, single submitter clinical testing The SYNE1 c.25712T>C; p.Leu8571Pro variant (rs139834542, ClinVar variant ID 282403), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with a non-Finnish European population frequency of 0.2% (identified on 315 out of 126,708 chromosomes, including one homozygote). The leucine at position 8571 is weakly conserved, considering 12 species, and computational analyses of the effects of the p.Leu8571Pro variant on protein structure and function predict a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Leu8571Pro variant cannot be determined with certainty.

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