NC_012920.1(MT-TL1):m.3243A>G AND Auditory neuropathy spectrum disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 2, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003984803.2

Allele description [Variation Report for NC_012920.1(MT-TL1):m.3243A>G]

NC_012920.1(MT-TL1):m.3243A>G

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.3243A>G

Other names:

A3243G; MT-TL1 m.3243A>G

HGVS:

NC_012920.1:m.3243A>G
NC_012920.1:g.3243A>G
m.3243A>G

Nucleotide change:

3243A-G

Links:

Genetic Testing Registry (GTR): GTR000556568; OMIM: 590050.0001; dbSNP: rs199474657

NCBI 1000 Genomes Browser:

rs199474657

Condition(s)

Name:: Auditory neuropathy spectrum disorder
Identifiers:: MedGen: C2732267

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004801112	Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University	no assertion criteria provided	Pathogenic (Oct 2, 2022)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004801112

Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University

no assertion criteria provided

Pathogenic
(Oct 2, 2022)

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	maternal	yes	not provided	not provided	not provided	not provided	no	clinical testing

Details of each submission

From Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, SCV004801112.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	not provided	not provided	no	clinical testing	not provided

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

Last Updated: Oct 26, 2024

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