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NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Aug 31, 2017
Accession:
VCV000527751.1
Variation ID:
527751
Description:
single nucleotide variant
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NM_001909.5(CTSD):c.101G>A (p.Arg34Gln)

Allele ID
526055
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 1761436 (GRCh38) GRCh38 UCSC
11: 1782666 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.1761436C>T
NC_000011.9:g.1782666C>T
NG_008655.1:g.7557G>A
NM_001909.5:c.101G>A MANE Select NP_001900.1:p.Arg34Gln missense
Protein change
R34Q
Other names
-
Canonical SPDI
NC_000011.10:1761435:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA379099945
dbSNP: rs1240316419
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 Aug 31, 2017 RCV000632712.1
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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
(Aug 31, 2017)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV000753898.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 34 of the CTSD protein (p.Arg34Gln). The arginine residue is highly 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 rs1240316419...

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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