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NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Sep 17, 2018
Accession:
VCV000205343.2
Variation ID:
205343
Description:
single nucleotide variant
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NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)

Allele ID
202527
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 1753623 (GRCh38) GRCh38 UCSC
11: 1774853 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.1753623C>G
NC_000011.9:g.1774853C>G
NG_008655.1:g.15370G>C
NM_001909.5:c.1119G>C MANE Select NP_001900.1:p.Met373Ile missense
Protein change
M373I
Other names
-
Canonical SPDI
NC_000011.10:1753622:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs796052398
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 Sep 17, 2018 RCV000810246.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001108709.1
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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
(Sep 17, 2018)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis
Allele origin: germline
Invitae
Accession: SCV000950439.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces methionine with isoleucine at codon 373 of the CTSD protein (p.Met373Ile). The methionine residue is moderately conserved and there is a … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Neuronal ceroid lipofuscinosis 10
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001265978.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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 rs796052398...

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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