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NM_000434.4(NEU1):c.1021+4A>T AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 6, 2024
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:
RCV004956118.1

Allele description [Variation Report for NM_000434.4(NEU1):c.1021+4A>T]

NM_000434.4(NEU1):c.1021+4A>T

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.1021+4A>T
HGVS:
  • NC_000006.12:g.31860038T>A
  • NG_008201.1:g.7895A>T
  • NM_000434.3:c.1021+4A>T
  • NM_000434.4:c.1021+4A>TMANE SELECT
  • NC_000006.11:g.31827815T>A
Links:
dbSNP: rs764121323
NCBI 1000 Genomes Browser:
rs764121323
Molecular consequence:
  • NM_000434.4:c.1021+4A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005457132Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Sep 6, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Novel Pathogenic Variant in the NEU1 Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot.

Sahoo LK, Kota V, Panigrahi PK, Pattnaik S, Mishra AP, Sahoo SK; as the SUM Neuro-opthalmology Study Group.

Neurology. 2023 Nov 7;101(19):861-862. doi: 10.1212/WNL.0000000000207715. Epub 2023 Aug 21. No abstract available.

PubMed [citation]
PMID:
37604664
PMCID:
PMC10663004

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Sheth J, Nair A, Bhavsar R, Godbole K, Datar C, Nampoothiri S, Panigrahi I, Shah H, Bajaj S, Tayade N, Bhardwaj N, Sheth H.

JIMD Rep. 2024 Mar;65(2):85-101. doi: 10.1002/jmd2.12407.

PubMed [citation]
PMID:
38444573
PMCID:
PMC10910243

Details of each submission

From Ambry Genetics, SCV005457132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.1021+4A>T intronic alteration results from an A to T substitution 4 nucleotides after coding exon 5 of the NEU1 gene. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been identified in the homozygous state in individuals with features consistent with Sialidosis (Sahoo, 2023; Sheth, 2024). This nucleotide position is highly conserved in available vertebrate species. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Based on the available evidence, this alteration is classified as likely pathogenic.

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

Last Updated: Jan 13, 2025