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NM_001174147.2(LMX1B):c.184C>T (p.Pro62Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2023
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:
RCV003252669.2

Allele description [Variation Report for NM_001174147.2(LMX1B):c.184C>T (p.Pro62Ser)]

NM_001174147.2(LMX1B):c.184C>T (p.Pro62Ser)

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.184C>T (p.Pro62Ser)
HGVS:
  • NC_000009.12:g.126615427C>T
  • NG_017039.1:g.5985C>T
  • NM_001174146.2:c.184C>T
  • NM_001174147.2:c.184C>TMANE SELECT
  • NM_002316.4:c.184C>T
  • NP_001167617.1:p.Pro62Ser
  • NP_001167618.1:p.Pro62Ser
  • NP_002307.2:p.Pro62Ser
  • LRG_1014t1:c.184C>T
  • LRG_1014t2:c.184C>T
  • LRG_1014t3:c.184C>T
  • LRG_1014:g.5985C>T
  • LRG_1014p1:p.Pro62Ser
  • LRG_1014p2:p.Pro62Ser
  • LRG_1014p3:p.Pro62Ser
  • NC_000009.11:g.129377706C>T
  • NM_002316.3:c.184C>T
Protein change:
P62S
Molecular consequence:
  • NM_001174146.2:c.184C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174147.2:c.184C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002316.4:c.184C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003953197Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 15, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003953197.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.184C>T (p.P62S) alteration is located in exon 2 (coding exon 2) of the LMX1B gene. This alteration results from a C to T substitution at nucleotide position 184, causing the proline (P) at amino acid position 62 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024