NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Oct 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669953.1

Allele description [Variation Report for NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)]

NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)

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.13645A>G (p.Asn4549Asp)
HGVS:
  • NC_000013.11:g.23330231T>C
  • NG_012342.1:g.108472A>G
  • NM_001278055.2:c.13204A>G
  • NM_014363.6:c.13645A>GMANE SELECT
  • NP_001264984.1:p.Asn4402Asp
  • NP_055178.3:p.Asn4549Asp
  • NC_000013.10:g.23904370T>C
  • NM_014363.4:c.13645A>G
Protein change:
N4402D
Links:
dbSNP: rs1178912631
NCBI 1000 Genomes Browser:
rs1178912631
Molecular consequence:
  • NM_001278055.2:c.13204A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.13645A>G - 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
SCV000794756Counsylcriteria provided, single submitter
Uncertain significance
(Oct 16, 2017)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Kozlov G, Denisov AY, Girard M, Dicaire MJ, Hamlin J, McPherson PS, Brais B, Gehring K.

J Biol Chem. 2011 Jun 10;286(23):20407-12. doi: 10.1074/jbc.M111.232884. Epub 2011 Apr 20.

PubMed [citation]
PMID:
21507954
PMCID:
PMC3121481

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G.

Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.

PubMed [citation]
PMID:
22287014
PMCID:
PMC3323119
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000794756.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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