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NM_000308.4(CTSA):c.233T>C (p.Val78Ala) AND Combined deficiency of sialidase AND beta galactosidase

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 24, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001930359.5

Allele description [Variation Report for NM_000308.4(CTSA):c.233T>C (p.Val78Ala)]

NM_000308.4(CTSA):c.233T>C (p.Val78Ala)

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.233T>C (p.Val78Ala)
HGVS:
  • NC_000020.11:g.45891954T>C
  • NG_008291.1:g.6003T>C
  • NG_033108.1:g.4334A>G
  • NM_000308.4:c.233T>CMANE SELECT
  • NM_001127695.3:c.233T>C
  • NM_001167594.3:c.233T>C
  • NP_000299.3:p.Val78Ala
  • NP_001121167.1:p.Val78Ala
  • NP_001161066.2:p.Val78Ala
  • NC_000020.10:g.44520593T>C
  • NR_133656.2:n.278T>C
Protein change:
V78A
Links:
dbSNP: rs1055279552
NCBI 1000 Genomes Browser:
rs1055279552
Molecular consequence:
  • NM_000308.4:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127695.3:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167594.3:c.233T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_133656.2:n.278T>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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002180250Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 24, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002180250.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces valine with alanine at codon 96 of the CTSA protein (p.Val96Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CTSA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024