NC_012920.1(MT-ND6):m.14498T>C AND Leigh syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 2019
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:: RCV000855115.1

Allele description [Variation Report for NC_012920.1(MT-ND6):m.14498T>C]

NC_012920.1(MT-ND6):m.14498T>C

Gene:

MT-ND6:mitochondrially encoded NADH dehydrogenase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ND6):m.14498T>C

HGVS:

NC_012920.1:m.14498T>C
AC_000021.2:m.14498C>T

Note:

NCBI staff reviewed the literature documenting the variant at this location, and corrected the representation to m.14498T>C

Links:

dbSNP: rs869025186

NCBI 1000 Genomes Browser:

rs869025186

Condition(s)

Name:: Leigh syndrome (NULS)
Synonyms:: Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000998165	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (Modified ACMG Guidelines (Unpublished))	Uncertain significance (Oct 17, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9177303, 8854108 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000998165

Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))

Uncertain significance
(Oct 17, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.

Biochem Biophys Res Commun. 1997 May 19;234(2):511-5.

PubMed [citation]

PMID:: 9177303

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B.

Ger J Ophthalmol. 1996 Jul;5(4):233-40.

PubMed [citation]

PMID:: 8854108

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000998165.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The NC_012920.1:m.14498T>C (YP_003024037.1:p.Tyr59Cys) variant in MTND6 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BP4, PP6

#	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

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