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NM_000020.2(ACVRL1):c.593T>C (p.Val198Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Jul 25, 2018
Accession:
VCV000285509.2
Variation ID:
285509
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.593T>C (p.Val198Ala)

Allele ID
269746
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51914041 (GRCh38) GRCh38 UCSC
12: 52307825 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.11624T>C
NC_000012.11:g.52307825T>C
NC_000012.12:g.51914041T>C
... more HGVS
Protein change
V198A
Other names
-
Canonical SPDI
NC_000012.12:51914040:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10605136
dbSNP: rs886043123
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 Jan 12, 2016 RCV000289108.1
Uncertain significance 1 criteria provided, single submitter Jul 25, 2018 RCV000796579.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACVRL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
573 584

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 12, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000338556.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jul 25, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 2
Allele origin: germline
Invitae
Accession: SCV000936098.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces valine with alanine at codon 198 of the ACVRL1 protein (p.Val198Ala). The valine residue is highly 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACVRL1 - - - -

Text-mined citations for rs886043123...

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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 Oct 08, 2021