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NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 1, 2021)
Last evaluated:
Jun 23, 2020
Accession:
VCV000871488.8
Variation ID:
871488
Description:
1bp duplication
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NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)

Allele ID
859436
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5p13.1
Genomic location
5: 38510698-38510699 (GRCh38) GRCh38 UCSC
5: 38510800-38510801 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.38510699dup
NC_000005.9:g.38510801dup
NG_011817.1:g.89707dup
... more HGVS
Protein change
K253*
Other names
-
Canonical SPDI
NC_000005.10:38510698:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jun 23, 2020 RCV001091485.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LIFR - - GRCh38
GRCh37
516 548

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001582994.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Lys253*) in the LIFR gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Nov 30, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV001832361.1
Submitted: (Sep 01, 2021)
Comment:
Patient analyzed with Comprehensive Skeletal Dysplasias and Disorders Panel
Evidence details
Pathogenic
(Nov 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247559.6
Submitted: (Jul 04, 2021)
Evidence details

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
Stüve-Wiedemann syndrome in a neonate. Sarafidis K Pediatrics international : official journal of the Japan Pediatric Society 2015 PMID: 25868946
Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement. Buonuomo PS Clinical dysmorphology 2014 PMID: 24477277
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Dagoneau N American journal of human genetics 2004 PMID: 14740318

Record last updated Oct 07, 2021