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NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro) AND Nail-patella-like renal disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 7, 2020
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:
RCV001807651.9

Allele description [Variation Report for NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro)]

NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro)

Gene:
LMX1B:LIM homeobox transcription factor 1 beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.3
Genomic location:
Preferred name:
NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro)
HGVS:
  • NC_000009.12:g.126693319G>C
  • NG_017039.1:g.83877G>C
  • NM_001174146.2:c.737G>C
  • NM_001174147.2:c.737G>CMANE SELECT
  • NM_002316.4:c.737G>C
  • NP_001167617.1:p.Arg246Pro
  • NP_001167618.1:p.Arg246Pro
  • NP_002307.2:p.Arg246Pro
  • LRG_1014t1:c.737G>C
  • LRG_1014t2:c.737G>C
  • LRG_1014t3:c.737G>C
  • LRG_1014:g.83877G>C
  • LRG_1014p1:p.Arg246Pro
  • LRG_1014p2:p.Arg246Pro
  • LRG_1014p3:p.Arg246Pro
  • NC_000009.11:g.129455598G>C
  • NM_002316.3:c.737G>C
Protein change:
R246P; ARG246PRO
Links:
OMIM: 602575.0015; dbSNP: rs1191455921
NCBI 1000 Genomes Browser:
rs1191455921
Molecular consequence:
  • NM_001174146.2:c.737G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174147.2:c.737G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002316.4:c.737G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nail-patella-like renal disease
Synonyms:
Salcedo syndrome; Glomerular basement membrane disease, nail-patella syndrome type; Focal Segmental Glomerulosclerosis 10
Identifiers:
MONDO: MONDO:0009724; MedGen: C0403548; Orphanet: 2613; OMIM: 256020

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449157OMIM
no assertion criteria provided
Pathogenic
(Dec 7, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

LMX1B mutations cause hereditary FSGS without extrarenal involvement.

Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C.

J Am Soc Nephrol. 2013 Jul;24(8):1216-22. doi: 10.1681/ASN.2013020171. Epub 2013 May 16.

PubMed [citation]
PMID:
23687361
PMCID:
PMC3736714

Details of each submission

From OMIM, SCV001449157.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a father and daughter of European descent (family B) with focal segmental glomerulosclerosis-10 (FSGS10; 256020), Boyer et al. (2013) identified a heterozygous c.737G-C transversion in exon 4 of the LMX1B gene, resulting in an arg246-to-pro (R246P) substitution at a highly conserved residue in the homeodomain, which is important for DNA binding and necessary for transcriptional activation. The mutation, which was found by direct sequencing of the LMX1B gene, was not present in the Exome Sequencing Project database. This family was ascertained from a cohort of 73 unrelated families with a similar phenotype. Functional studies of the variant and studies of patient cells were not performed, but Boyer et al. (2013) hypothesized that the mutation might interfere with DNA binding.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024