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NM_001909.5(CTSD):c.505C>G (p.Leu169Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 10, 2021)
Last evaluated:
Dec 18, 2020
Accession:
VCV000588664.6
Variation ID:
588664
Description:
single nucleotide variant
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NM_001909.5(CTSD):c.505C>G (p.Leu169Val)

Allele ID
579728
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 1757523 (GRCh38) GRCh38 UCSC
11: 1778753 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.1757523G>C
NC_000011.9:g.1778753G>C
NG_008655.1:g.11470C>G
NM_001909.5:c.505C>G MANE Select NP_001900.1:p.Leu169Val missense
Protein change
L169V
Other names
-
Canonical SPDI
NC_000011.10:1757522:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs768487717
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 Jan 16, 2017 RCV000717869.1
Uncertain significance 1 criteria provided, single submitter Oct 29, 2020 RCV001348162.1
Uncertain significance 1 criteria provided, single submitter Dec 18, 2020 RCV001555248.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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 29, 2020)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV001542452.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces leucine with valine at codon 169 of the CTSD protein (p.Leu169Val). The leucine residue is weakly conserved and there is a … (more)
Uncertain significance
(Jan 16, 2017)
criteria provided, single submitter
Method: clinical testing
Seizures
Allele origin: germline
Ambry Genetics
Accession: SCV000848729.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.L169V variant (also known as c.505C>G), located in coding exon 5 of the CTSD gene, results from a C to G substitution at nucleotide … (more)
Uncertain significance
(Dec 18, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001776629.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports … (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 rs768487717...

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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 Sep 23, 2021