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NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 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:
RCV002282894.1

Allele description [Variation Report for NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)]

NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)

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.7163C>T (p.Thr2388Ile)
HGVS:
  • NC_000013.11:g.23336713G>A
  • NG_012342.1:g.101990C>T
  • NM_001278055.2:c.6722C>T
  • NM_014363.4:c.7163C>T
  • NM_014363.6:c.7163C>TMANE SELECT
  • NP_001264984.1:p.Thr2241Ile
  • NP_055178.3:p.Thr2388Ile
  • NC_000013.10:g.23910852G>A
  • NM_014363.5:c.7163C>T
Protein change:
T2241I
Molecular consequence:
  • NM_001278055.2:c.6722C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.7163C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002570859Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002570859.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: SACS c.7163C>T (p.Thr2388Ile) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6.8e-05 in 250606 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in SACS causing Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (6.8e-05 vs 0.0079), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.7163C>T in individuals affected with Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024