NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 14, 2012
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000058988.15

Allele description [Variation Report for NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)]

NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)

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.899T>C (p.Leu300Ser)

HGVS:

NC_000022.11:g.50626234A>G
NG_009260.2:g.6946T>C
NM_000487.6:c.899T>CMANE SELECT
NM_001085425.3:c.899T>C
NM_001085426.3:c.899T>C
NM_001085427.3:c.899T>C
NM_001085428.3:c.641T>C
NM_001362782.2:c.641T>C
NP_000478.3:p.Leu300Ser
NP_001078894.2:p.Leu300Ser
NP_001078895.2:p.Leu300Ser
NP_001078896.2:p.Leu300Ser
NP_001078897.1:p.Leu214Ser
NP_001349711.1:p.Leu214Ser
NC_000022.10:g.51064662A>G
NM_000487.4:c.893T>C
NM_000487.5:c.899T>C
p.L298S

Protein change:

L214S

Links:

UniProtKB/Swiss-Prot: VAR_054196; dbSNP: rs199476389

NCBI 1000 Genomes Browser:

rs199476389

Molecular consequence:

NM_000487.6:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001085425.3:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001085426.3:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001085427.3:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001085428.3:c.641T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001362782.2:c.641T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000090509	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]
SCV000110816	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Nov 14, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090509

UniProtKB/Swiss-Prot

no classification provided

not provided

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

SCV000110816

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Nov 14, 2012)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.

Kurosawa K, Ida H, Eto Y.

J Inherit Metab Dis. 1998 Oct;21(7):781-2. No abstract available.

PubMed [citation]

PMID:: 9819708

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090509.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000110816.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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