NC_012920.1:m.3928G>C AND Leigh syndrome

Clinical significance:Uncertain significance (Last evaluated: Oct 17, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000144023.3

Allele description [Variation Report for NC_012920.1:m.3928G>C]

NC_012920.1:m.3928G>C

Gene:
MT-ND1:mitochondrially encoded NADH dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1:m.3928G>C
HGVS:
  • NC_012920.1:m.3928G>C
  • NC_012920.1:m.3928G>C
  • NC_012920.1:m.3928G>C
  • NC_012920.1:m.3928G>C
  • YP_003024026.1:p.Val208Leu
  • YP_003024026.1:p.Val208Leu
Protein change:
V208L
Links:
dbSNP: rs587776442
NCBI 1000 Genomes Browser:
rs587776442

Condition(s)

Name:
Leigh syndrome (LS)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188916GeneReviewsno assertion criteria providedPathogenic
(Apr 17, 2014)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000996747Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicinecriteria provided, single submitter
Uncertain significance
(Oct 17, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL.

Mitochondrion. 2013 Nov;13(6):656-61. doi: 10.1016/j.mito.2013.09.004. Epub 2013 Sep 22.

PubMed [citation]
PMID:
24063851

Details of each submission

From GeneReviews, SCV000188916.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000996747.1

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

Description

The NC_012920.1:m.3928G>C (YP_003024026.1:p.Val208Leu) variant in MTND1 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM2, PM9, PP4

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

Last Updated: May 26, 2021

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