NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 2023
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:: RCV003317355.1

Allele description [Variation Report for NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)]

NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)

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.11101T>C (p.Trp3701Arg)

HGVS:

NC_000013.11:g.23332775A>G
NG_012342.1:g.105928T>C
NM_001278055.2:c.10660T>C
NM_014363.6:c.11101T>CMANE SELECT
NP_001264984.1:p.Trp3554Arg
NP_055178.3:p.Trp3701Arg
NC_000013.10:g.23906914A>G
NM_014363.5:c.11101T>C

Protein change:

W3554R

Links:

dbSNP: rs773588375

NCBI 1000 Genomes Browser:

rs773588375

Molecular consequence:

NM_001278055.2:c.10660T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.11101T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004021103	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jun 22, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004021103

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jun 22, 2023)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Park J, Oh HM, Park HJ, Cho AR, Lee DW, Jang JH, Jang DH.

Mol Genet Genomic Med. 2019 Oct;7(10):e00947. doi: 10.1002/mgg3.947. Epub 2019 Sep 1.

PubMed [citation]

PMID:: 31475473
PMCID:: PMC6785438

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004021103.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Variant summary: SACS c.11101T>C (p.Trp3701Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251048 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.11101T>C has been reported in the literature in individuals affected with Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (Park_2019). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 31475473). One ClinVar submitter has cited an Affected case to ClinVar after 2014, this case is also reported in Park_2019. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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