NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) AND Metachromatic leukodystrophy, mild

Clinical significance:Pathogenic (Last evaluated: Nov 7, 2018)

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:
RCV000003228.5

Allele description [Variation Report for NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)]

NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)

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.1115G>A (p.Arg372Gln)
Other names:
R370Q
HGVS:
  • NC_000022.11:g.50625674C>T
  • NG_009260.2:g.7506G>A
  • NM_000487.6:c.1115G>AMANE SELECT
  • NM_001085425.3:c.1115G>A
  • NM_001085426.3:c.1115G>A
  • NM_001085427.3:c.1115G>A
  • NM_001085428.3:c.857G>A
  • NM_001362782.2:c.857G>A
  • NP_000478.3:p.Arg372Gln
  • NP_001078894.2:p.Arg372Gln
  • NP_001078895.2:p.Arg372Gln
  • NP_001078896.2:p.Arg372Gln
  • NP_001078897.1:p.Arg286Gln
  • NP_001349711.1:p.Arg286Gln
  • NC_000022.10:g.51064102C>T
  • NM_000487.5:c.1115G>A
Protein change:
R286Q; ARG370GLN
Links:
OMIM: 607574.0034; dbSNP: rs74315477
NCBI 1000 Genomes Browser:
rs74315477
Molecular consequence:
  • NM_000487.6:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.857G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.857G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Metachromatic leukodystrophy, mild
Identifiers:
MedGen: C4017847

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023386OMIMno assertion criteria providedPathogenic
(Nov 7, 2018)
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

Details of each submission

From OMIM, SCV000023386.3

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

Description

In Jewish patients with mild metachromatic leukodystrophy (250100), Gieselmann et al. (1994) reported a G-to-A substitution of the ARSA gene changing an arginine to glutamine at position 370 in exon 7.

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

Last Updated: Nov 27, 2021

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