NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs) AND Charlevoix-Saguenay spastic ataxia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 20, 2022
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:: RCV002309095.2

Allele description [Variation Report for NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)]

NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)

Genes:

LOC130009366:ATAC-STARR-seq lymphoblastoid silent region 5172 [Gene]
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)

HGVS:

NC_000013.11:g.23375263_23375265delinsAA
NG_012342.1:g.63438_63440delinsTT
NM_001278055.2:c.-329_-327delinsTT
NM_014363.6:c.25_27delinsTTMANE SELECT
NP_055178.3:p.Val9fs
NC_000013.10:g.23949402_23949404delinsAA

Protein change:

V9fs

Molecular consequence:

NM_001278055.2:c.-329_-327delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_014363.6:c.25_27delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002602904	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 20, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602904

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Mar 20, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602904.2

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

Description

NM_014363.4(SACS):c.25_27delGTCinsTT(V9Ffs*3) is expected to be pathogenic in the context of autosomal recessive spastic ataxia of Charlevoix-Saguenay. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SACS, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Jan 13, 2025

ClinVar

Relating variation to medicine