NC_012920.1(MT-TL1):m.3271T>C AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 17, 2017
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:: RCV000507161.8

Allele description [Variation Report for NC_012920.1(MT-TL1):m.3271T>C]

NC_012920.1(MT-TL1):m.3271T>C

Gene:

MT-TL1:mitochondrially encoded tRNA leucine 1 (UUA/G) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-TL1):m.3271T>C

HGVS:

NC_012920.1:m.3271T>C
NC_012920.1:g.3271T>C

Nucleotide change:

3271T-C

Links:

OMIM: 590050.0002; dbSNP: rs199474658

NCBI 1000 Genomes Browser:

rs199474658

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Reinboldiella schmitziana photosystem I 700 apoprotein A1 (psaA) gene, partial c...
Reinboldiella schmitziana photosystem I 700 apoprotein A1 (psaA) gene, partial cds; plastid
gi|114152546|gb|DQ787614.1|

Nucleotide
Delesseria serrulata photosystem I 700 apoprotein A1 (psaA) gene, partial cds; p...
Delesseria serrulata photosystem I 700 apoprotein A1 (psaA) gene, partial cds; plastid
gi|114152560|gb|DQ787621.1|

Nucleotide
Brachyura cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial.
Brachyura cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial.
PopSet: 197260937

PopSet
Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 [Rattus norvegic...
Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 [Rattus norvegicus]
Gene ID:362300

Gene

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
SCV000604303	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Mar 17, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000604303

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Mar 17, 2017)

germline

clinical testing

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604303.1

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

#	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: May 19, 2024

ClinVar

Relating variation to medicine