NM_002296.4(LBR):c.1748G>T (p.Arg583Leu) AND RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 17, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001836611.2

Allele description [Variation Report for NM_002296.4(LBR):c.1748G>T (p.Arg583Leu)]

NM_002296.4(LBR):c.1748G>T (p.Arg583Leu)

Gene:

LBR:lamin B receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.12

Genomic location:

Preferred name:

NM_002296.4(LBR):c.1748G>T (p.Arg583Leu)

Other names:

R58L

HGVS:

NC_000001.11:g.225403403C>A
NG_008099.1:g.30415G>T
NM_002296.4:c.1748G>TMANE SELECT
NM_194442.3:c.1748G>T
NP_002287.2:p.Arg583Leu
NP_919424.1:p.Arg583Leu
NC_000001.10:g.225591105C>A
NM_002296.3:c.1748G>T

Protein change:

R583L; ARG58LEU

Links:

OMIM: 600024.0017; dbSNP: rs587777172

NCBI 1000 Genomes Browser:

rs587777172

Molecular consequence:

NM_002296.4:c.1748G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_194442.3:c.1748G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002073663	OMIM	no assertion criteria provided	Pathogenic (Mar 17, 2022)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002073663

OMIM

no assertion criteria provided

Pathogenic
(Mar 17, 2022)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.

Thompson E, Abdalla E, Superti-Furga A, McAlister W, Kratz L, Unger S, Royer-Bertrand B, Campos-Xavier B, Mittaz-Crettol L, Amin AK, DeSanto C, Wilson DB, Douglas G, Kozel B, Shinawi M.

Bone. 2019 Mar;120:354-363. doi: 10.1016/j.bone.2018.11.006. Epub 2018 Nov 15.

PubMed [citation]

PMID:: 30448303

Details of each submission

From OMIM, SCV002073663.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the c.1748G-T transversion in exon 14 of the LBR gene, resulting in an arg58-to-leu (R58L) substitution, that was identified in compound heterozygous state in a patient with rhizomelic skeletal dysplasia with Pelger-Huet anomaly (SKPHA; 618019) by Thompson et al. (2019), see 600024.0016.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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