NM_147127.5(EVC2):c.893del (p.His298fs) AND Ellis-van Creveld syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 30, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000667995.2

Allele description [Variation Report for NM_147127.5(EVC2):c.893del (p.His298fs)]

NM_147127.5(EVC2):c.893del (p.His298fs)

Gene:

EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_147127.5(EVC2):c.893del (p.His298fs)

HGVS:

NC_000004.12:g.5665627del
NG_015821.1:g.48922del
NM_001166136.2:c.653del
NM_147127.5:c.893delMANE SELECT
NP_001159608.1:p.His218fs
NP_667338.3:p.His298fs
NC_000004.11:g.5667354del
NM_147127.4:c.893delA

Protein change:

H218fs

Links:

dbSNP: rs777505711

NCBI 1000 Genomes Browser:

rs777505711

Molecular consequence:

NM_001166136.2:c.653del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_147127.5:c.893del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Ellis-van Creveld syndrome (EVC)
Synonyms:: MESOECTODERMAL DYSPLASIA; Chondroectodermal dysplasia
Identifiers:: MONDO: MONDO:0009162; MedGen: C0013903; Orphanet: 289; OMIM: 225500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000792533	Counsyl	no assertion criteria provided	Likely pathogenic (Jun 30, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792533

Counsyl

no assertion criteria provided

Likely pathogenic
(Jun 30, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA.

Hum Genet. 2007 Jan;120(5):663-70. Epub 2006 Sep 21.

PubMed [citation]

PMID:: 17024374

Details of each submission

From Counsyl, SCV000792533.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 5, 2025

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