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NM_000308.4(CTSA):c.60del (p.Ser21fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 19, 2021)
Last evaluated:
Apr 16, 2021
Accession:
VCV001098801.1
Variation ID:
1098801
Description:
1bp deletion
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NM_000308.4(CTSA):c.60del (p.Ser21fs)

Allele ID
1087557
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 45891628 (GRCh38) GRCh38 UCSC
20: 44520267 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.44520267del
NC_000020.11:g.45891628del
NM_000308.4:c.60del MANE Select NP_000299.3:p.Ser21fs frameshift
... more HGVS
Protein change
S21fs, S39fs
Other names
-
Canonical SPDI
NC_000020.11:45891627:G:
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
Pathogenic 1 criteria provided, single submitter Apr 16, 2021 RCV001420871.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CTSA - - GRCh38
GRCh37
125 145

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 16, 2021)
criteria provided, single submitter
Method: clinical testing
Combined deficiency of sialidase AND beta galactosidase
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623291.1
Submitted: (May 19, 2021)
Evidence details
Publications
PubMed (5)
Comment:
Variant summary: CTSA c.114delG (p.Ser39ProfsX71) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (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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Title Author Journal Year Link
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders. Zanetti A The Journal of molecular diagnostics : JMD 2020 PMID: 32036093
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. Annunziata I Expert opinion on orphan drugs 2017 PMID: 28603679
Galactosialidosis: review and analysis of CTSA gene mutations. Caciotti A Orphanet journal of rare diseases 2013 PMID: 23915561
Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies. Tatano Y The journal of medical investigation : JMI 2006 PMID: 16538002
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. Malvagia S Molecular genetics and metabolism 2004 PMID: 15110321

Record last updated Jun 14, 2021