Submissions for variant NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)

gnomAD frequency: 0.00004  dbSNP: rs137852924

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000763528	SCV000626058	pathogenic	Ellis-van Creveld syndrome; Curry-Hall syndrome	2024-01-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg399*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant is present in population databases (rs137852924, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 12571802, 21199751, 23026208). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3383). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV000578498	SCV000680767	pathogenic	not provided	2021-07-22	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33452237, 29068549, 21199751, 23276573, 12571802, 17024374, 23026208, 25525159)
Eurofins Ntd Llc (ga)	RCV000578498	SCV000859321	pathogenic	not provided	2018-01-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000763528	SCV000894340	pathogenic	Ellis-van Creveld syndrome; Curry-Hall syndrome	2018-10-31	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV000578498	SCV002501386	pathogenic	not provided	2021-05-22	criteria provided, single submitter	clinical testing
OMIM	RCV000003550	SCV000023708	pathogenic	Ellis-van Creveld syndrome	2003-03-01	no assertion criteria provided	literature only
Dan Cohn Lab, University Of California Los Angeles	RCV000516144	SCV000612085	pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly	2017-06-01	no assertion criteria provided	research
Dan Cohn Lab, University Of California Los Angeles	RCV000003550	SCV000612086	pathogenic	Ellis-van Creveld syndrome	2017-06-01	no assertion criteria provided	research
Counsyl	RCV000003550	SCV000791341	pathogenic	Ellis-van Creveld syndrome	2017-05-08	no assertion criteria provided	clinical testing
University of Washington Center for Mendelian Genomics, University of Washington	RCV000003550	SCV001479600	likely pathogenic	Ellis-van Creveld syndrome		no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000516144	SCV001479761	likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly		no assertion criteria provided	research
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital	RCV000003550	SCV004037445	pathogenic	Ellis-van Creveld syndrome		no assertion criteria provided	literature only