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NM_000487.6(ARSA):c.302del (p.Gly101fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Mar 16, 2017
Accession:
VCV000424445.2
Variation ID:
424445
Description:
1bp deletion
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NM_000487.6(ARSA):c.302del (p.Gly101fs)

Allele ID
411049
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50627329 (GRCh38) GRCh38 UCSC
22: 51065757 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.51065763del
NC_000022.11:g.50627335del
NM_000487.6:c.302del MANE Select NP_000478.3:p.Gly101fs frameshift
... more HGVS
Protein change
G101fs, G15fs
Other names
-
Canonical SPDI
NC_000022.11:50627328:CCCCCCC:CCCCCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10325059
dbSNP: rs761606317
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 16, 2017 RCV000483135.2
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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
586 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 06, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000704696.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Mar 16, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000574253.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.302delG variant in the ARSA gene has been previously reported in an individual with lateinfantile metachromatic leukodystrophy. This individual was also found to be … (more)

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ARSA - - - -

Text-mined citations for rs761606317...

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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 Feb 27, 2021