NM_014363.6(SACS):c.8108G>A (p.Arg2703His) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Aug 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000668456.1

Allele description [Variation Report for NM_014363.6(SACS):c.8108G>A (p.Arg2703His)]

NM_014363.6(SACS):c.8108G>A (p.Arg2703His)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
HGVS:
  • NC_000013.11:g.23335768C>T
  • NG_012342.1:g.102935G>A
  • NM_001278055.2:c.7667G>A
  • NM_014363.6:c.8108G>AMANE SELECT
  • NP_001264984.1:p.Arg2556His
  • NP_055178.3:p.Arg2703His
  • NC_000013.10:g.23909907C>T
  • NM_014363.4:c.8108G>A
Protein change:
R2556H
Links:
dbSNP: rs750181262
NCBI 1000 Genomes Browser:
rs750181262
Molecular consequence:
  • NM_001278055.2:c.7667G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.8108G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charlevoix-Saguenay spastic ataxia (SACS)
Synonyms:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Spastic ataxia of Charlevoix-Saguenay; SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0010041; MedGen: C1849140; Orphanet: 98; OMIM: 270550

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000793063Counsylcriteria provided, single submitter
Uncertain significance
(Aug 2, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, et al.

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14.

PubMed [citation]
PMID:
26288984

Details of each submission

From Counsyl, SCV000793063.1

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

Last Updated: Sep 29, 2021

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