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NM_000487.6(ARSA):c.1271C>T (p.Ala424Val) AND Metachromatic leukodystrophy

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV004557388.1

Allele description [Variation Report for NM_000487.6(ARSA):c.1271C>T (p.Ala424Val)]

NM_000487.6(ARSA):c.1271C>T (p.Ala424Val)

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.1271C>T (p.Ala424Val)
HGVS:
  • NC_000022.11:g.50625404G>A
  • NG_009260.2:g.7776C>T
  • NM_000487.6:c.1271C>TMANE SELECT
  • NM_001085425.3:c.1271C>T
  • NM_001085426.3:c.1271C>T
  • NM_001085427.3:c.1271C>T
  • NM_001085428.3:c.1013C>T
  • NM_001362782.2:c.1013C>T
  • NP_000478.3:p.Ala424Val
  • NP_001078894.2:p.Ala424Val
  • NP_001078895.2:p.Ala424Val
  • NP_001078896.2:p.Ala424Val
  • NP_001078897.1:p.Ala338Val
  • NP_001349711.1:p.Ala338Val
  • NC_000022.10:g.51063832G>A
  • NM_000487.5:c.1271C>T
Protein change:
A338V
Molecular consequence:
  • NM_000487.6:c.1271C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.1271C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.1271C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.1271C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.1013C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.1013C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005046751Gelb Laboratory, University of Washington
no classification provided
not providednot applicablein vitro

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro

Citations

PubMed

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.

Trinidad M, Hong X, Froelich S, Daiker J, Sacco J, Nguyen HP, Campagna M, Suhr D, Suhr T, LeBowitz JH, Gelb MH, Clark WT.

Genome Biol. 2023 Jul 21;24(1):172. doi: 10.1186/s13059-023-03001-z.

PubMed [citation]
PMID:
37480112
PMCID:
PMC10360315

Details of each submission

From Gelb Laboratory, University of Washington, SCV005046751.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)

Description

"0 to < 2% of wild type ARSA enzymatic activity is taken as severe, 2 to <4% is taken moderate, 4 to 13% is taken as mild, and >13% is taken as benign, see PMID: 37480112"

PubMed [ID: 37480112]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providedassert pathogenicitynot providednot providednot providednot provided

Last Updated: Jun 9, 2024