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NM_000118.3(ENG):c.1702G>A (p.Val568Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Jun 28, 2016
Accession:
VCV000407125.1
Variation ID:
407125
Description:
single nucleotide variant
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NM_000118.3(ENG):c.1702G>A (p.Val568Ile)

Allele ID
397049
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127817188 (GRCh38) GRCh38 UCSC
9: 130579467 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.12:g.127817188C>T
NC_000009.11:g.130579467C>T
NM_000118.3:c.1702G>A NP_000109.1:p.Val568Ile missense
... more HGVS
Protein change
V568I, V386I
Other names
-
Canonical SPDI
NC_000009.12:127817187:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA5252675
dbSNP: rs781201877
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 28, 2016 RCV000468455.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
590 883
LOC102723566 - - - GRCh38 - 269

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 28, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000546119.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces valine with isoleucine at codon 568 of the ENG protein (p.Val568Ile). The valine residue is moderately conserved and there is a … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs781201877...

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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 Apr 12, 2021