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NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: May 21, 2020)
Last evaluated:
Oct 7, 2019
Accession:
VCV000617959.3
Variation ID:
617959
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro)

Allele ID
609840
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51915357 (GRCh38) GRCh38 UCSC
12: 52309141 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52309141T>C
NC_000012.12:g.51915357T>C
NM_000020.2:c.905T>C NP_000011.2:p.Leu302Pro missense
... more HGVS
Protein change
L302P
Other names
-
Canonical SPDI
NC_000012.12:51915356:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1565594217
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 27, 2017 RCV000755785.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 7, 2019 RCV001040697.2
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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
564 575

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 27, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000883357.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The ACVRL1 c.905T>C; p.Leu302Pro variant has not been reported in the literature or gene-specific databases. However, a different variant at this codon, p.Leu302Arg, has been … (more)
Uncertain significance
(Oct 07, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 2
Allele origin: germline
Invitae
Accession: SCV001204286.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces leucine with proline at codon 302 of the ACVRL1 protein (p.Leu302Pro). The leucine residue is highly conserved and there is a … (more)
Likely pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001439472.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PM2+PM1+PP4

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
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Shovlin CL Blood 2020 PMID: 32573726
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. Schulte C Human mutation 2005 PMID: 15880681

Text-mined citations for rs1565594217...

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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 08, 2021