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NM_001909.5(CTSD):c.141T>G (p.Ile47Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 20, 2018
Accession:
VCV000641902.1
Variation ID:
641902
Description:
single nucleotide variant
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NM_001909.5(CTSD):c.141T>G (p.Ile47Met)

Allele ID
639842
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 1761396 (GRCh38) GRCh38 UCSC
11: 1782626 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.1761396A>C
NC_000011.9:g.1782626A>C
NG_008655.1:g.7597T>G
NM_001909.5:c.141T>G MANE Select NP_001900.1:p.Ile47Met missense
Protein change
I47M
Other names
-
Canonical SPDI
NC_000011.10:1761395:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs545927559
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 20, 2018 RCV000795249.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CTSD - - GRCh38
GRCh37
377 410

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 20, 2018)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV000934698.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces isoleucine with methionine at codon 47 of the CTSD protein (p.Ile47Met). The isoleucine residue is moderately conserved and there is a … (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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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 rs545927559...

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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 08, 2021