NM_000047.3(ARSL):c.410G>T (p.Gly137Val) AND X-linked chondrodysplasia punctata 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 7, 1995
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:: RCV000012281.13

Allele description [Variation Report for NM_000047.3(ARSL):c.410G>T (p.Gly137Val)]

NM_000047.3(ARSL):c.410G>T (p.Gly137Val)

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.410G>T (p.Gly137Val)

HGVS:

NC_000023.11:g.2953163C>A
NG_007091.1:g.16108G>T
NM_000047.3:c.410G>TMANE SELECT
NM_001282628.2:c.485G>T
NM_001282631.2:c.248G>T
NM_001369079.1:c.437G>T
NM_001369080.1:c.485G>T
NP_000038.2:p.Gly137Val
NP_000038.2:p.Gly137Val
NP_001269557.1:p.Gly162Val
NP_001269560.2:p.Gly83Val
NP_001356008.1:p.Gly146Val
NP_001356009.1:p.Gly162Val
NC_000023.10:g.2871204C>A
NM_000047.2:c.410G>T
P51690:p.Gly137Val

Protein change:

G137V; GLY137VAL

Links:

UniProtKB: P51690#VAR_007310; OMIM: 300180.0004; dbSNP: rs80338711

NCBI 1000 Genomes Browser:

rs80338711

Molecular consequence:

NM_000047.3:c.410G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282628.2:c.485G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282631.2:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369079.1:c.437G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369080.1:c.485G>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
SCV000032515	OMIM	no assertion criteria provided	Pathogenic (Apr 7, 1995)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 2722194, 7720070
SCV000040401	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (4) [See all records that cite these PMIDs] 2722194, 7720070, 9497243, 20301713

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032515

OMIM

no assertion criteria provided

Pathogenic
(Apr 7, 1995)

germline

literature only

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

SCV000040401

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (4)
[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

Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.

Maroteaux P.

Hum Genet. 1989 May;82(2):167-70.

PubMed [citation]

PMID:: 2722194

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A.

Cell. 1995 Apr 7;81(1):15-25.

PubMed [citation]

PMID:: 7720070

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000032515.1

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

Description

In a male patient who was case 1 in the report by Maroteaux (1989), Franco et al. (1995) found a G-to-T transversion in exon 4 of the ARSE gene, resulting in a gly137-to-val amino acid substitution. Maroteaux (1989) was particularly impressed with hypoplasia of the distal phalanges, and designated the disorder chondrodysplasia punctata, brachytelephalangic.

#	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, SCV000040401.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

#	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: Oct 8, 2022

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