NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) AND Noonan syndrome 1

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003151134.8

Allele description [Variation Report for NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)]

NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)

Gene:

LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)

Other names:

NM_006767.4(LZTR1):c.848G>A

HGVS:

NC_000022.11:g.20991684G>A
NG_034193.1:g.14416G>A
NM_006767.4:c.848G>AMANE SELECT
NP_006758.2:p.Arg283Gln
LRG_989t1:c.848G>A
LRG_989:g.14416G>A
LRG_989p1:p.Arg283Gln
NC_000022.10:g.21345973G>A
NM_006767.3:c.848G>A

Protein change:

R283Q

Links:

dbSNP: rs1223430276

Molecular consequence:

NM_006767.4:c.848G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Noonan syndrome 1 (NS1)
Synonyms:: FEMALE PSEUDO-TURNER SYNDROME; TURNER PHENOTYPE WITH NORMAL KARYOTYPE; PTPN11-Related Noonan Syndrome
Identifiers:: MONDO: MONDO:0008104; MedGen: C4551602; Orphanet: 648; OMIM: 163950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003840171	Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	no assertion criteria provided	Likely pathogenic	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003840171

Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

no assertion criteria provided

Likely pathogenic

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	1	not provided	research

Details of each submission

From Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand, SCV003840171.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided

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

Last Updated: Jun 27, 2026

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