U.S. flag

An official website of the United States government

NM_153717.3(EVC):c.1040C>T (p.Thr347Met) AND Ellis-van Creveld syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 16, 2020
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:
RCV001272634.9

Allele description [Variation Report for NM_153717.3(EVC):c.1040C>T (p.Thr347Met)]

NM_153717.3(EVC):c.1040C>T (p.Thr347Met)

Gene:
EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
HGVS:
  • NC_000004.12:g.5748248C>T
  • NG_008843.1:g.42052C>T
  • NM_001306090.2:c.1040C>T
  • NM_001306092.2:c.1040C>T
  • NM_153717.3:c.1040C>TMANE SELECT
  • NP_001293019.1:p.Thr347Met
  • NP_001293021.1:p.Thr347Met
  • NP_714928.1:p.Thr347Met
  • NC_000004.11:g.5749975C>T
  • NM_153717.2:c.1040C>T
Protein change:
T347M
Links:
dbSNP: rs34947207
NCBI 1000 Genomes Browser:
rs34947207
Molecular consequence:
  • NM_001306090.2:c.1040C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306092.2:c.1040C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153717.3:c.1040C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001454801Natera, Inc.
no assertion criteria provided
Likely benign
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001454801.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024