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NM_001174147.2(LMX1B):c.217G>T (p.Glu73Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 25, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002601682.3

Allele description [Variation Report for NM_001174147.2(LMX1B):c.217G>T (p.Glu73Ter)]

NM_001174147.2(LMX1B):c.217G>T (p.Glu73Ter)

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.217G>T (p.Glu73Ter)
HGVS:
  • NC_000009.12:g.126615460G>T
  • NG_017039.1:g.6018G>T
  • NM_001174146.2:c.217G>T
  • NM_001174147.2:c.217G>TMANE SELECT
  • NM_002316.4:c.217G>T
  • NP_001167617.1:p.Glu73Ter
  • NP_001167618.1:p.Glu73Ter
  • NP_002307.2:p.Glu73Ter
  • LRG_1014t1:c.217G>T
  • LRG_1014t2:c.217G>T
  • LRG_1014t3:c.217G>T
  • LRG_1014:g.6018G>T
  • LRG_1014p1:p.Glu73Ter
  • LRG_1014p2:p.Glu73Ter
  • LRG_1014p3:p.Glu73Ter
  • NC_000009.11:g.129377739G>T
Protein change:
E73*
Molecular consequence:
  • NM_001174146.2:c.217G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001174147.2:c.217G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002316.4:c.217G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002951252Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 25, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B.

Nat Genet. 1998 May;19(1):47-50.

PubMed [citation]
PMID:
9590287

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.

Dunston JA, Hamlington JD, Zaveri J, Sweeney E, Sibbring J, Tran C, Malbroux M, O'Neill JP, Mountford R, McIntosh I.

Genomics. 2004 Sep;84(3):565-76.

PubMed [citation]
PMID:
15498463
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002951252.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Glu73*) in the LMX1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMX1B are known to be pathogenic (PMID: 9590287, 15498463). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of nail-patella syndrome (PMID: 31502745). This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Sep 29, 2024