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

gnomAD frequency: 0.00212  dbSNP: rs143388379

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	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	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000757233	SCV002575215	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences	RCV003945392	SCV004771250	likely benign	EVC2-related condition	2020-03-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).