U.S. flag

An official website of the United States government

NM_000370.3(TTPA):c.574C>T (p.Arg192Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 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:
RCV003490882.1

Allele description [Variation Report for NM_000370.3(TTPA):c.574C>T (p.Arg192Cys)]

NM_000370.3(TTPA):c.574C>T (p.Arg192Cys)

Gene:
TTPA:alpha tocopherol transfer protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q12.3
Genomic location:
Preferred name:
NM_000370.3(TTPA):c.574C>T (p.Arg192Cys)
HGVS:
  • NC_000008.11:g.63064295G>A
  • NG_016123.1:g.26759C>T
  • NM_000370.3:c.574C>TMANE SELECT
  • NM_001413414.1:c.226C>T
  • NM_001413415.1:c.359-2870C>T
  • NM_001413416.1:c.574C>T
  • NM_001413417.1:c.205-2870C>T
  • NM_001413418.1:c.691C>T
  • NP_000361.1:p.Arg192Cys
  • NP_001400343.1:p.Arg76Cys
  • NP_001400345.1:p.Arg192Cys
  • NP_001400347.1:p.Arg231Cys
  • NC_000008.10:g.63976854G>A
  • NR_182149.1:n.412C>T
  • NR_182150.1:n.741C>T
  • NR_182151.1:n.452C>T
Protein change:
R192C
Molecular consequence:
  • NM_001413415.1:c.359-2870C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001413417.1:c.205-2870C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000370.3:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413414.1:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413416.1:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413418.1:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_182149.1:n.412C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_182150.1:n.741C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_182151.1:n.452C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004241442Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 14, 2023) 		germlineclinical testing

Citation Link

Help

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, SCV004241442.1

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

Description

Variant summary: TTPA c.574C>T (p.Arg192Cys) results in a non-conservative amino acid change located in the CRAL-TRIO lipid binding domain (IPR001251) of 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 8e-06 in 250192 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.574C>T in individuals affected with Ataxia With Vitamin E Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited 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: Feb 14, 2024