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NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 10, 2020
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:
RCV001388340.6

Allele description [Variation Report for NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer)]

NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer)

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.1290_1291delinsAA (p.Trp430_Gln431delinsTer)
HGVS:
  • NC_000004.12:g.5753027_5753028delinsAA
  • NG_008843.1:g.46831_46832delinsAA
  • NM_001306090.2:c.1290_1291delinsAA
  • NM_001306092.2:c.1290_1291delinsAA
  • NM_153717.3:c.1290_1291delinsAAMANE SELECT
  • NP_001293019.1:p.Trp430_Gln431delinsTer
  • NP_001293021.1:p.Trp430_Gln431delinsTer
  • NP_714928.1:p.Trp430_Gln431delinsTer
  • NC_000004.11:g.5754754_5754755delinsAA
Links:
dbSNP: rs2152076745
NCBI 1000 Genomes Browser:
rs2152076745
Molecular consequence:
  • NM_001306090.2:c.1290_1291delinsAA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001306092.2:c.1290_1291delinsAA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_153717.3:c.1290_1291delinsAA - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001589275Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 10, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV001589275.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This sequence change creates a premature translational stop signal (p.Trp430*) in the EVC gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with EVC-related conditions.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024