ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) (rs143388379)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595037 SCV000703549 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757233 SCV000885381 uncertain significance not provided 2017-05-21 criteria provided, single submitter clinical testing The p.Ser155Pro variant (rs143388379) has not been reported in the medical literature or gene specific variation databases, including ClinVar, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Consortium browser with an overall population frequency of 0.07 percent (identified on 190 out of 277,126 chromosomes). The serine at position 155 is moderately conserved, and computational analyses of the effects of the p.Ser155Pro variant on protein structure and function indicate a neutral effect (SIFT: tolerated, PolyPhen-2: benign, MutationTaster: polymorphism). Altogether, there is not enough evidence to classify the p.Ser155Pro variant with certainty.
Invitae RCV001083331 SCV001021790 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing

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