NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) AND Sialidosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 11, 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:: RCV001293567.1

Allele description [Variation Report for NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)]

NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)

Gene:

NEU1:neuraminidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)

HGVS:

NC_000006.12:g.31860042G>A
NG_008201.1:g.7891C>T
NM_000434.4:c.1021C>TMANE SELECT
NP_000425.1:p.Arg341Ter
NC_000006.11:g.31827819G>A
NM_000434.3:c.1021C>T

Protein change:

R341*

Links:

dbSNP: rs751458617

NCBI 1000 Genomes Browser:

rs751458617

Molecular consequence:

NM_000434.4:c.1021C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Sialidosis
Identifiers:: MONDO: MONDO:0017734; MedGen: C0268226; Orphanet: 309294

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001482172	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Feb 11, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21214877, 32453490 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001482172

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Feb 11, 2021)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Coutinho MF, Lacerda L, Macedo-Ribeiro S, Baptista E, Ribeiro H, Prata MJ, Alves S.

Clin Genet. 2012 Apr;81(4):379-93. doi: 10.1111/j.1399-0004.2011.01625.x. Epub 2011 Mar 1.

PubMed [citation]

PMID:: 21214877

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

Han X, Wu S, Wang M, Li H, Huang Y, Sui R.

Mol Genet Genomic Med. 2020 Aug;8(8):e1316. doi: 10.1002/mgg3.1316. Epub 2020 May 26.

PubMed [citation]

PMID:: 32453490
PMCID:: PMC7434748

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001482172.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: NEU1 c.1021C>T (p.Arg341X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic in other databases. The variant allele was found at a frequency of 8.1e-06 in 246350 control chromosomes. c.1021C>T has been reported in the literature in individuals affected with Sialidosis (e.g. Coutinho_2012, Han_2020). These data indicate that the variant is associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Feb 20, 2024

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