NM_000487.6(ARSA):c.179G>C (p.Arg60Pro) AND Metachromatic leukodystrophy

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001172247.1

Allele description [Variation Report for NM_000487.6(ARSA):c.179G>C (p.Arg60Pro)]

NM_000487.6(ARSA):c.179G>C (p.Arg60Pro)

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.179G>C (p.Arg60Pro)
HGVS:
  • NC_000022.11:g.50627601C>G
  • NG_009260.2:g.5579G>C
  • NM_000487.6:c.179G>CMANE SELECT
  • NM_001085425.3:c.179G>C
  • NM_001085426.3:c.179G>C
  • NM_001085427.3:c.179G>C
  • NM_001085428.3:c.-34-195G>C
  • NM_001362782.2:c.-34-195G>C
  • NP_000478.3:p.Arg60Pro
  • NP_001078894.2:p.Arg60Pro
  • NP_001078895.2:p.Arg60Pro
  • NP_001078896.2:p.Arg60Pro
  • NC_000022.10:g.51066029C>G
Protein change:
R60P
Molecular consequence:
  • NM_001085428.3:c.-34-195G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362782.2:c.-34-195G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000487.6:c.179G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.179G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.179G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.179G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Metachromatic leukodystrophy (MLD)
Synonyms:
Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000999153Medical Molecular Genetics Department, National Research Centercriteria provided, single submitter
Likely pathogenicinheritedclinical testing

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

Description

Homozygous - novel

SCV000999153

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Medical Molecular Genetics Department, National Research Center, SCV000999153.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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