NM_147127.5(EVC2):c.534dup (p.Glu179Ter) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 8, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002532163.2

Allele description [Variation Report for NM_147127.5(EVC2):c.534dup (p.Glu179Ter)]

NM_147127.5(EVC2):c.534dup (p.Glu179Ter)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_147127.5(EVC2):c.534dup (p.Glu179Ter)

HGVS:

NC_000004.12:g.5689329dup
NG_015821.1:g.25220dup
NM_001166136.2:c.294dup
NM_147127.5:c.534dupMANE SELECT
NP_001159608.1:p.Glu99Ter
NP_667338.3:p.Glu179Ter
NC_000004.11:g.5691055_5691056insA
NC_000004.11:g.5691056dup
NM_147127.4:c.534dupT
NM_147127.5:c.534dupTMANE SELECT

Protein change:

E179*

Links:

dbSNP: rs1553851462

Molecular consequence:

NM_001166136.2:c.294dup - nonsense - [Sequence Ontology: SO:0001587]
NM_147127.5:c.534dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003536789	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 8, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003536789

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 8, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003536789.2

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

Description

The c.534dupT (p.E179*) alteration, located in exon 5 (coding exon 5) of the EVC2 gene, consists of a duplication of T at position 534, causing a translational frameshift with a predicted alternate stop codon after amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the supporting evidence, this variant is expected to be causative of autosomal recessive Ellis-van Creveld syndrome (AR); however, its clinical significance for autosomal dominant Weyers acrofacial dysostosis (AD) is unclear. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Apr 12, 2026

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