NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 25, 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:: RCV001241196.7

Allele description [Variation Report for NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)]

NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)

Gene:

EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

4p16.2

Genomic location:

Preferred name:

NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)

HGVS:

NC_000004.12:g.5752994_5752996delinsAGTT
NG_008843.1:g.46798_46800delinsAGTT
NM_001306090.2:c.1257_1259delinsAGTT
NM_001306092.2:c.1257_1259delinsAGTT
NM_153717.3:c.1257_1259delinsAGTTMANE SELECT
NP_001293019.1:p.Glu420fs
NP_001293021.1:p.Glu420fs
NP_714928.1:p.Glu420fs
NC_000004.11:g.5754721_5754723delinsAGTT
NC_000004.11:g.5754721_5754723delinsAGTT
NM_153717.2:c.1257_1259delinsAGTT

Protein change:

E420fs

Links:

dbSNP: rs1730623318

NCBI 1000 Genomes Browser:

rs1730623318

Molecular consequence:

NM_001306090.2:c.1257_1259delinsAGTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001306092.2:c.1257_1259delinsAGTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153717.3:c.1257_1259delinsAGTT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Name:: Curry-Hall syndrome (WAD)
Synonyms:: Acrofacial dysostosis of Weyers; WEYERS ACRODENTAL DYSOSTOSIS
Identifiers:: MONDO: MONDO:0008673; MedGen: C0457013; Orphanet: 952; OMIM: 193530

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gi|664648417|gb|KJ556162.1|

Nucleotide
LOC126841582 [Adelges cooleyi]
LOC126841582 [Adelges cooleyi]
Gene ID:126841582

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001414198	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 25, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23220543, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001414198

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 25, 2021)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A.

Eur J Med Genet. 2013 Feb;56(2):80-7. doi: 10.1016/j.ejmg.2012.11.005. Epub 2012 Dec 7.

PubMed [citation]

PMID:: 23220543

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001414198.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

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 variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu420Valfs*57) 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).

#	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: Sep 29, 2024

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