NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) AND Metachromatic leukodystrophy, severe

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1993)

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:
RCV000003224.3

Allele description [Variation Report for NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)]

NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)

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.890C>A (p.Ser297Tyr)
Other names:
S295Y
HGVS:
  • NC_000022.11:g.50626243G>T
  • NG_009260.2:g.6937C>A
  • NM_000487.6:c.890C>AMANE SELECT
  • NM_001085425.3:c.890C>A
  • NM_001085426.3:c.890C>A
  • NM_001085427.3:c.890C>A
  • NM_001085428.3:c.632C>A
  • NM_001362782.2:c.632C>A
  • NP_000478.3:p.Ser297Tyr
  • NP_001078894.2:p.Ser297Tyr
  • NP_001078895.2:p.Ser297Tyr
  • NP_001078896.2:p.Ser297Tyr
  • NP_001078897.1:p.Ser211Tyr
  • NP_001349711.1:p.Ser211Tyr
  • NC_000022.10:g.51064671G>T
  • NM_001085428.2:c.632C>A
Protein change:
S211Y; SER295TYR
Links:
OMIM: 607574.0030; dbSNP: rs74315474
NCBI 1000 Genomes Browser:
rs74315474
Molecular consequence:
  • NM_000487.6:c.890C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.890C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.890C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.890C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.632C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.632C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Metachromatic leukodystrophy, severe
Identifiers:
MedGen: C4017094

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023382OMIMno assertion criteria providedPathogenic
(Dec 1, 1993)
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

Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.

Barth ML, Fensom A, Harris A.

Hum Mol Genet. 1993 Dec;2(12):2117-21.

PubMed [citation]
PMID:
7906588

Details of each submission

From OMIM, SCV000023382.2

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

Description

In Saudi Arabian patients with severe metachromatic leukodystrophy (250100), Barth et al. (1993) identified a C-to-A substitution of the ARSA gene changing a serine to tyrosine at position 295 in exon 5.

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

Last Updated: Oct 8, 2021

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