NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) AND X-linked chondrodysplasia punctata 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 1, 2003
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:: RCV000012284.14

Allele description [Variation Report for NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)]

NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)

Gene:

ARSL:arylsulfatase L [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.33

Genomic location:

Preferred name:

NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)

HGVS:

NC_000023.11:g.2934870G>A
NG_007091.1:g.34401C>T
NM_000047.3:c.1732C>TMANE SELECT
NM_001282628.2:c.1807C>T
NM_001282631.2:c.1570C>T
NM_001369079.1:c.1759C>T
NM_001369080.1:c.1807C>T
NP_000038.2:p.Pro578Ser
NP_000038.2:p.Pro578Ser
NP_001269557.1:p.Pro603Ser
NP_001269560.2:p.Pro524Ser
NP_001356008.1:p.Pro587Ser
NP_001356009.1:p.Pro603Ser
NC_000023.10:g.2852911G>A
NM_000047.2:c.1732C>T
P51690:p.Pro578Ser

Protein change:

P524S; PRO578SER

Links:

UniProtKB: P51690#VAR_023572; OMIM: 300180.0007; dbSNP: rs28935474

NCBI 1000 Genomes Browser:

rs28935474

Molecular consequence:

NM_000047.3:c.1732C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282628.2:c.1807C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282631.2:c.1570C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369079.1:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369080.1:c.1807C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: X-linked chondrodysplasia punctata 1 (CDPX1)
Synonyms:: Chondrodysplasia punctata 1, X-linked recessive; Arylsulfatase E deficiency; Chondrodysplasia punctata, brachytelephalangic; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010555; MedGen: C3669395; OMIM: 302950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032518	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000040398	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 12567415, 20301713

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032518

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2003)

germline

literature only

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

SCV000040398

GeneReviews

no classification provided

not provided

unknown

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
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G.

Am J Med Genet A. 2003 Mar 1;117A(2):164-8.

PubMed [citation]

PMID:: 12567415

Chondrodysplasia Punctata 1, X-Linked.

Braverman NE, Bober MB, Brunetti-Pierri N, Suchy SF.

2008 Apr 22 [updated 2020 Oct 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301713

Details of each submission

From OMIM, SCV000032518.2

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

Description

In an Asian newborn who presented with chondrodysplasia punctata (CDPX1; 302950), facial dysmorphisms, cataracts, and neonatal death, Brunetti-Pierri et al. (2003) identified a 2034C-T transition in exon 4 of the ARSE gene, resulting in a pro578-to-ser (P578S) substitution. Expression of the mutation in COS-7 cells showed greatly decreased activity.

#	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

From GeneReviews, SCV000040398.2

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

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

Last Updated: Jun 9, 2024

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