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NM_000434.4(NEU1):c.914G>A (p.Arg305His) AND Sialidosis type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 23, 2023
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:
RCV003152742.2

Allele description [Variation Report for NM_000434.4(NEU1):c.914G>A (p.Arg305His)]

NM_000434.4(NEU1):c.914G>A (p.Arg305His)

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.914G>A (p.Arg305His)
HGVS:
  • NC_000006.12:g.31860149C>T
  • NG_008201.1:g.7784G>A
  • NM_000434.4:c.914G>AMANE SELECT
  • NP_000425.1:p.Arg305His
  • NC_000006.11:g.31827926C>T
  • NM_000434.3:c.914G>A
Protein change:
R305H
Links:
dbSNP: rs774362886
NCBI 1000 Genomes Browser:
rs774362886
Molecular consequence:
  • NM_000434.4:c.914G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sialidosis type 2
Synonyms:
ML I; NEU DEFICIENCY; Sialidosis, type II; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009738; MedGen: C4282398; Orphanet: 812; Orphanet: 87876; OMIM: 256550

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0038413873billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 23, 2023) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?

Neeraja K, Holla VV, Prasad S, Surisetti BK, Rakesh K, Kamble N, Yadav R, Pal PK.

J Mov Disord. 2021 Jan;14(1):65-69. doi: 10.14802/jmd.20083. Epub 2020 Oct 31.

PubMed [citation]
PMID:
33121223
PMCID:
PMC7840231

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, et al.

Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.

PubMed [citation]
PMID:
25401298
PMCID:
PMC4281260
See all PubMed Citations (4)

Details of each submission

From 3billion, SCV003841387.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.75; 3Cnet: 0.72). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with NEU1 related disorder (PMID: 25401298). Different missense changes at the same codon (p.Arg305Cys, p.Arg305Pro) have been reported to be associated with NEU1 related disorder (PMID: 24808020, 33121223). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Oct 20, 2024