NM_000308.4(CTSA):c.193T>C (p.Trp65Arg) AND Combined deficiency of sialidase AND beta galactosidase

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1993
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000000409.6

Allele description [Variation Report for NM_000308.4(CTSA):c.193T>C (p.Trp65Arg)]

NM_000308.4(CTSA):c.193T>C (p.Trp65Arg)

Gene:

CTSA:cathepsin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_000308.4(CTSA):c.193T>C (p.Trp65Arg)

HGVS:

NC_000020.11:g.45891761T>C
NG_008291.1:g.5810T>C
NG_033108.1:g.4527A>G
NM_000308.4:c.193T>CMANE SELECT
NM_001127695.3:c.193T>C
NM_001167594.3:c.193T>C
NP_000299.3:p.Trp65Arg
NP_001121167.1:p.Trp65Arg
NP_001161066.2:p.Trp65Arg
NC_000020.10:g.44520400T>C
NR_133656.2:n.238T>C

Protein change:

W65R; TRP65ARG

Links:

OMIM: 613111.0004; dbSNP: rs28934603

NCBI 1000 Genomes Browser:

rs28934603

Molecular consequence:

NM_000308.4:c.193T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127695.3:c.193T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001167594.3:c.193T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_133656.2:n.238T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Combined deficiency of sialidase AND beta galactosidase (GSL)
Synonyms:: CATHEPSIN A DEFICIENCY; Galactosialidosis; Goldberg syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009737; MedGen: C0268233; Orphanet: 351; OMIM: 256540

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020553	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1993)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020553

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1993)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Protective protein gene mutations in galactosialidosis.

Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y.

J Clin Invest. 1993 Jun;91(6):2393-8.

PubMed [citation]

PMID:: 8514852
PMCID:: PMC443297

Details of each submission

From OMIM, SCV000020553.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Japanese infant with galactosialidosis (GSL; 256540), Shimmoto et al. (1993) found compound heterozygosity for mutations in the CTSA gene: a T-to-C transition at nucleotide 193 in exon 2, resulting in a trp65-to-arg (W65R) substitution, and the intron 7 splice site mutation (613111.0002).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 24, 2022

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