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NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu) AND X-linked chondrodysplasia punctata 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2019
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:
RCV000796979.5

Allele description [Variation Report for NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu)]

NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu)

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.1239C>A (p.Asp413Glu)
HGVS:
  • NC_000023.11:g.2938145G>T
  • NG_007091.1:g.31126C>A
  • NM_000047.3:c.1239C>AMANE SELECT
  • NM_001282628.2:c.1314C>A
  • NM_001282631.2:c.1077C>A
  • NM_001369079.1:c.1266C>A
  • NM_001369080.1:c.1314C>A
  • NP_000038.2:p.Asp413Glu
  • NP_000038.2:p.Asp413Glu
  • NP_001269557.1:p.Asp438Glu
  • NP_001269560.2:p.Asp359Glu
  • NP_001356008.1:p.Asp422Glu
  • NP_001356009.1:p.Asp438Glu
  • NC_000023.10:g.2856186G>T
  • NM_000047.2:c.1239C>A
Protein change:
D359E
Links:
dbSNP: rs142382411
NCBI 1000 Genomes Browser:
rs142382411
Molecular consequence:
  • NM_000047.3:c.1239C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282628.2:c.1314C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282631.2:c.1077C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369079.1:c.1266C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369080.1:c.1314C>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451624Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Jan 23, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001451624.1

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

Description

The ARSE c.1239C>A (p.Asp413Glu) variant is a missense variant. A literature search was performed for the gene, cDNA, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. The Asp413 residue is highly conserved through evolution. Based on the limited evidence, the p.Asp413Glu variant is classified as a variant of uncertain significance for chondrodysplasia punctata.

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

Last Updated: Feb 28, 2024