NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) AND Waardenburg syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1993
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:: RCV000004438.4

Allele description [Variation Report for NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)]

NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)

Gene:

PAX3:paired box 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.1

Genomic location:

Preferred name:

NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)

HGVS:

NC_000002.12:g.222297132C>A
NG_011632.1:g.6850G>T
NG_021186.1:g.3986C>A
NM_000438.6:c.167G>T
NM_001127366.3:c.167G>T
NM_013942.5:c.167G>T
NM_181457.4:c.167G>T
NM_181458.4:c.167G>TMANE SELECT
NM_181459.4:c.167G>T
NM_181460.4:c.167G>T
NM_181461.4:c.167G>T
NP_000429.2:p.Arg56Leu
NP_001120838.1:p.Arg56Leu
NP_039230.1:p.Arg56Leu
NP_852122.1:p.Arg56Leu
NP_852123.1:p.Arg56Leu
NP_852124.1:p.Arg56Leu
NP_852125.1:p.Arg56Leu
NP_852126.1:p.Arg56Leu
NC_000002.11:g.223161851C>A
NM_181459.3:c.167G>T
P23760:p.Arg56Leu

Protein change:

R56L; ARG56LEU

Links:

UniProtKB: P23760#VAR_003794; OMIM: 606597.0014; dbSNP: rs267606931

NCBI 1000 Genomes Browser:

rs267606931

Molecular consequence:

NM_000438.6:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127366.3:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013942.5:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181457.4:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181458.4:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181459.4:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181460.4:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_181461.4:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Waardenburg syndrome type 1 (WS1)
Synonyms:: WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM; Waardenburg's syndrome type 1
Identifiers:: MONDO: MONDO:0008670; MedGen: C1847800; OMIM: 193500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024611	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1993)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8447316, 1308353

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024611

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1993)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT.

Am J Hum Genet. 1993 Mar;52(3):455-62.

PubMed [citation]

PMID:: 8447316
PMCID:: PMC1682157

Waardenburg syndrome associated with meningomyelocele.

Carezani-Gavin M, Clarren SK, Steege T.

Am J Med Genet. 1992 Jan 1;42(1):135-6. No abstract available.

PubMed [citation]

PMID:: 1308353

Details of each submission

From OMIM, SCV000024611.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of a family with Waardenburg syndrome type 1 (193500), Hoth et al. (1993) identified a heterozygous 380G-T transversion in exon 2 of the PAX3 gene, resulting in an arg56-to-leu (R56L) substitution. One of the affected individuals had a meningomyelocele. The family had been reported by Carezani-Gavin et al. (1992).

#	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 15, 2024

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