Submissions for variant NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV002309081	SCV002602890	likely pathogenic	Ellis-van Creveld syndrome	2022-03-17	criteria provided, single submitter	clinical testing	NM_153717.2(EVC):c.2191G>T(E731*) is expected to be pathogenic in the context of EVC-related Ellis-van Creveld syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in EVC, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003099152	SCV003235368	pathogenic	Ellis-van Creveld syndrome; Curry-Hall syndrome	2022-09-09	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EVC-related conditions. This sequence change creates a premature translational stop signal (p.Glu731*) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543).