ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) (rs141859946)

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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 RCV000756094 SCV000883810 likely benign not provided 2018-02-18 criteria provided, single submitter clinical testing The c.1369G>A; p.Glu457Lys variant (rs141859946), 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 an overall population frequency of 0.2% (identified on 560 out of 277,222 chromosomes, including one homozygote) and is classified as benign/likely benign in ClinVar (ID: 349176). The glutamic acid at position 457 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.Glu457Lys variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Glu457Lys variant is likely to be benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000609966 SCV000856209 likely benign not specified 2017-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000609966 SCV000714050 likely benign not specified 2017-04-06 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 RCV000301118 SCV000450257 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356036 SCV000450258 likely benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542079 SCV000634716 benign Chondroectodermal dysplasia; Curry-Hall syndrome 2018-01-02 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000542079 SCV000782673 uncertain significance Chondroectodermal dysplasia; Curry-Hall syndrome 2017-06-01 criteria provided, single submitter clinical testing

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