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NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 7, 2020
Accession:
VCV000848648.2
Variation ID:
848648
Description:
single nucleotide variant
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NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)

Allele ID
838157
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 1761464 (GRCh38) GRCh38 UCSC
11: 1782694 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.1761464G>A
NC_000011.9:g.1782694G>A
NG_008655.1:g.7529C>T
NM_001909.5:c.73C>T MANE Select NP_001900.1:p.Pro25Ser missense
Protein change
P25S
Other names
-
Canonical SPDI
NC_000011.10:1761463:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 7, 2020 RCV001052450.2
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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
(Feb 07, 2020)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV001216660.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces proline with serine at codon 25 of the CTSD protein (p.Pro25Ser). The proline 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.

Record last updated Oct 08, 2021