NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) AND Arylsulfatase a pseudodeficiency, severe

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1994)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003229.3

Allele description [Variation Report for NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)]

NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)
HGVS:
  • NC_000022.11:g.50625653G>A
  • NG_009260.2:g.7527C>T
  • NM_000487.6:c.1136C>TMANE SELECT
  • NM_001085425.3:c.1136C>T
  • NM_001085426.3:c.1136C>T
  • NM_001085427.3:c.1136C>T
  • NM_001085428.3:c.878C>T
  • NM_001362782.2:c.878C>T
  • NP_000478.3:p.Pro379Leu
  • NP_001078894.2:p.Pro379Leu
  • NP_001078895.2:p.Pro379Leu
  • NP_001078896.2:p.Pro379Leu
  • NP_001078897.1:p.Pro293Leu
  • NP_001349711.1:p.Pro293Leu
  • NC_000022.10:g.51064081G>A
Protein change:
P293L; PRO377LEU
Links:
OMIM: 607574.0035; dbSNP: rs74315478
NCBI 1000 Genomes Browser:
rs74315478
Molecular consequence:
  • NM_000487.6:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arylsulfatase a pseudodeficiency, severe
Identifiers:
MedGen: C4017095

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023387OMIMno assertion criteria providedPathogenic
(Jan 1, 1994)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Late infantile metachromatic leukodystrophy in Israel.

Zlotogora J, Gieselman V, von Figura K, Zeigler M, Bach G.

Biomed Pharmacother. 1994;48(8-9):347-50.

PubMed [citation]
PMID:
7858169

Details of each submission

From OMIM, SCV000023387.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In Habbanite Jewish patients with severe arylsulfatase A pseudodeficiency (250100), Zlotogora et al. (1994) identified a C-to-T substitution of the ARSA gene changing a proline to leucine at position 377 in exon 7. This mutation has a high frequency among the small population of Habbanite Jews (1 in 75 live births).

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

Last Updated: Nov 2, 2019

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