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NM_000487.6(ARSA):c.466-7G>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 29, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000425284.15
Variation ID:
425284
Description:
single nucleotide variant
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NM_000487.6(ARSA):c.466-7G>C

Allele ID
413618
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627059 (GRCh38) GRCh38 UCSC
22: 51065487 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065487C>G
NC_000022.11:g.50627059C>G
NG_009260.2:g.6121G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:50627058:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00399 (G)

Allele frequency
1000 Genomes Project 0.00399
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00174
Trans-Omics for Precision Medicine (TOPMed) 0.00215
The Genome Aggregation Database (gnomAD) 0.00294
Links
ClinGen: CA10325001
dbSNP: rs6151414
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jul 1, 2021 RCV000487951.9
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 4, 2020 RCV001083981.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSA - - GRCh38
GRCh37
590 726

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000575335.12
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001305143.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Sep 30, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001715403.1
Submitted: (May 26, 2021)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Invitae
Accession: SCV001019232.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 25, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000968608.2
Submitted: (Sep 29, 2021)
Evidence details
Likely benign
(Jan 02, 2020)
no assertion criteria provided
Method: clinical testing
Metachromatic leukodystrophy
Allele origin: germline
Natera, Inc.
Accession: SCV001456239.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs6151414...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021