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NM_001127671.2(LIFR):c.1290del (p.Val431fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 20, 2020
Accession:
VCV001074532.1
Variation ID:
1074532
Description:
1bp deletion
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NM_001127671.2(LIFR):c.1290del (p.Val431fs)

Allele ID
1060416
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p13.1
Genomic location
5: 38505906 (GRCh38) GRCh38 UCSC
5: 38506008 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.38505910del
NC_000005.9:g.38506012del
NM_001127671.2:c.1290del MANE Select NP_001121143.1:p.Val431fs frameshift
... more HGVS
Protein change
V431fs
Other names
-
Canonical SPDI
NC_000005.10:38505905:TTTTT:TTTT
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 1 criteria provided, single submitter Oct 20, 2020 RCV001387860.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001588581.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Val431Phefs*11) in the LIFR gene. It is expected to result in an absent or disrupted protein … (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
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 May 13, 2021