NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Uncertain significance (Last evaluated: Apr 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674260.1

Allele description [Variation Report for NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)]

NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)

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.1607C>T (p.Pro536Leu)
HGVS:
  • NC_000013.11:g.23355005G>A
  • NG_012342.1:g.83698C>T
  • NM_001278055.2:c.1166C>T
  • NM_014363.6:c.1607C>TMANE SELECT
  • NP_001264984.1:p.Pro389Leu
  • NP_055178.3:p.Pro536Leu
  • NC_000013.10:g.23929144G>A
  • NM_014363.4:c.1607C>T
Protein change:
P389L
Links:
dbSNP: rs1440541889
NCBI 1000 Genomes Browser:
rs1440541889
Molecular consequence:
  • NM_001278055.2:c.1166C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.1607C>T - 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
SCV000799567Counsylcriteria provided, single submitter
Uncertain significance
(Apr 25, 2018)
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

[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].

Anheim M, Chaigne D, Fleury M, Santorelli FM, De S├Ęze J, Durr A, Brice A, Koenig M, Tranchant C.

Rev Neurol (Paris). 2008 Apr;164(4):363-8. doi: 10.1016/j.neurol.2008.02.001. Epub 2008 Mar 25. French.

PubMed [citation]
PMID:
18439928

Details of each submission

From Counsyl, SCV000799567.1

#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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