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NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys) AND Charlevoix-Saguenay spastic ataxia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 9, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001526398.2

Allele description [Variation Report for NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)]

NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)

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.13588G>T (p.Gly4530Cys)
HGVS:
  • NC_000013.11:g.23330288C>A
  • NG_012342.1:g.108415G>T
  • NM_001278055.2:c.13147G>T
  • NM_014363.6:c.13588G>TMANE SELECT
  • NP_001264984.1:p.Gly4383Cys
  • NP_055178.3:p.Gly4530Cys
  • NC_000013.10:g.23904427C>A
  • NM_014363.4:c.13588G>T
Protein change:
G4383C
Links:
dbSNP: rs2137547970
NCBI 1000 Genomes Browser:
rs2137547970
Molecular consequence:
  • NM_001278055.2:c.13147G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.13588G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001712122Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 9, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in SACS cause atypical and late-onset forms of ARSACS.

Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P.

Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c.

PubMed [citation]
PMID:
20876471

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV001712122.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (2)

Description

The variant was detected in homozygosity in a patient with clinical suspicion of CMT. The patient's phenotype is within the ARSACS spectrum (Baets, J., 2010). Segregation analyses to exclude pseudo-homozygosity could not be performed . No other pathogenic variants were detected in relevant genes. The variant is absent from controls and it has not yet been reported in clinical databases. Formally, it is a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023