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NM_153717.3(EVC):c.2449+1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 20, 2020
Accession:
VCV000551324.2
Variation ID:
551324
Description:
single nucleotide variant
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NM_153717.3(EVC):c.2449+1G>A

Allele ID
543510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.2
Genomic location
4: 5802095 (GRCh38) GRCh38 UCSC
4: 5803822 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.5803822G>A
NC_000004.12:g.5802095G>A
NG_008843.1:g.95899G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:5802094:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553893423
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 30, 2017 RCV000666355.1
Likely pathogenic 1 criteria provided, single submitter May 20, 2020 RCV001378311.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EVC - - GRCh38
GRCh37
927 1014

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Mar 30, 2017)
criteria provided, single submitter
Method: clinical testing
Ellis-van Creveld syndrome
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000790634.1
Submitted: (Jul 10, 2018)
Likely pathogenic
(May 20, 2020)
criteria provided, single submitter
Method: clinical testing
Curry-Hall syndrome
Ellis-van Creveld syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001575856.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (2)
PubMed: 1619954723220543
Comment:
This sequence change affects a donor splice site in intron 16 of the EVC gene. It is expected to disrupt RNA splicing and likely results … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. D'Asdia MC European journal of medical genetics 2013 PMID: 23220543
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Text-mined citations for rs1553893423...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021