NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Dec 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664815.1

Allele description [Variation Report for NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)]

NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)
HGVS:
  • NC_000013.11:g.23333222_23333227del
  • NG_012342.1:g.105478_105483del
  • NM_001278055.2:c.10210_10215del
  • NM_014363.6:c.10651_10656delMANE SELECT
  • NP_001264984.1:p.Met3404_Leu3405del
  • NP_055178.3:p.Met3551_Leu3552del
  • NC_000013.10:g.23907361_23907366del
  • NM_014363.4:c.10651_10656del6
Links:
dbSNP: rs1555250156
NCBI 1000 Genomes Browser:
rs1555250156
Molecular consequence:
  • NM_001278055.2:c.10210_10215del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014363.6:c.10651_10656del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000788830Counsylcriteria provided, single submitter
Uncertain significance
(Dec 21, 2016)
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

Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Leavitt JA, Singer W, Brown WL, Pulido JS, Brodsky MC.

J Neuroophthalmol. 2014 Dec;34(4):369-71. doi: 10.1097/WNO.0000000000000174.

PubMed [citation]
PMID:
25237835

Details of each submission

From Counsyl, SCV000788830.1

#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: Oct 7, 2021

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