NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 18, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414752.1

Allele description [Variation Report for NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)]

NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)

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.979G>A (p.Gly327Ser)
HGVS:
  • NC_000022.11:g.50626154C>T
  • NG_009260.2:g.7026G>A
  • NM_000487.6:c.979G>AMANE SELECT
  • NM_001085425.3:c.979G>A
  • NM_001085426.3:c.979G>A
  • NM_001085427.3:c.979G>A
  • NM_001085428.3:c.721G>A
  • NM_001362782.2:c.721G>A
  • NP_000478.3:p.Gly327Ser
  • NP_001078894.2:p.Gly327Ser
  • NP_001078895.2:p.Gly327Ser
  • NP_001078896.2:p.Gly327Ser
  • NP_001078897.1:p.Gly241Ser
  • NP_001349711.1:p.Gly241Ser
  • NC_000022.10:g.51064582C>T
  • NM_000487.5:c.979G>A
Protein change:
G241S
Links:
dbSNP: rs148092995
NCBI 1000 Genomes Browser:
rs148092995
Molecular consequence:
  • NM_000487.6:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.721G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490407GeneDxcriteria provided, single submitter
Pathogenic
(Apr 18, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000490407.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The G327S variant in the ARSA gene has been previously reported in association with juvenile-onset MLD in two families where affected individuals were also heterozygous for another pathogenic variant in ARSA (Eng et. al, 2003; Cesani et al., 2015). This variant causes a non-conservative amino acid substituion in a conservative position and it is predicted to destroy the canonical splice donor site of intron 5. A missense variant in the same codon (G327C [G325C using alternative nomenclature]) is reported to cause aberrant splicing of ARSA mRNA (Gieselmann et. al, 1994). Therefore, we interpret G327S to be a pathogenic variant.

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

Last Updated: Oct 8, 2021

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