NM_000434.3(NEU1):c.649G>A (p.Val217Met) AND Sialidosis, type II

Clinical significance:Likely pathogenic (Last evaluated: Nov 6, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000361724.1

Allele description

NM_000434.3(NEU1):c.649G>A (p.Val217Met)

Gene:
NEU1:neuraminidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_000434.3(NEU1):c.649G>A (p.Val217Met)
HGVS:
  • NC_000006.12:g.31860588C>T
  • NG_008201.1:g.7345G>A
  • NM_000434.3:c.649G>A
  • NP_000425.1:p.Val217Met
  • NC_000006.11:g.31828365C>T
  • Q99519:p.Val217Met
Protein change:
V217M; VAL217MET
Links:
UniProtKB: Q99519#VAR_012211; OMIM: 608272.0007; dbSNP: rs28940583
GMAF:
0.0002(T), 28940583
NCBI 1000 Genomes Browser:
rs28940583
Allele Frequency:
0.00009(T), GO-ESP
Molecular consequence:
  • NM_000434.3:c.649G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Sialidosis, type II
Synonyms:
ML I; NEU DEFICIENCY; CHERRY RED SPOT--MYOCLONUS SYNDROME
Identifiers:
MedGen: C0268226; Orphanet: 812; Orphanet: 87876; OMIM: 256550

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000337112EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Nov 6, 2015)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.

Van Goor F, Yu H, Burton B, Hoffman BJ.

J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23.

PubMed [citation]
PMID:
23891399

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000337112.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 27, 2018