NM_017775.3(TTC19):c.994+3A>T AND Mitochondrial complex III deficiency

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000377299.1

Allele description [Variation Report for NM_017775.3(TTC19):c.994+3A>T]

NM_017775.3(TTC19):c.994+3A>T

Gene:
TTC19:tetratricopeptide repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_017775.3(TTC19):c.994+3A>T
HGVS:
  • NC_000017.11:g.16026705A>T
  • NG_029806.1:g.32326A>T
  • NM_017775.3:c.994+3A>T
  • NC_000017.10:g.15930019A>T
Links:
dbSNP: rs189614332
NCBI 1000 Genomes Browser:
rs189614332
Molecular consequence:
  • NM_017775.3:c.994+3A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Mitochondrial complex III deficiency (MC3DN1)
Synonyms:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; Mitochondrial complex III deficiency, nuclear type 1
Identifiers:
MedGen: C3541471; Orphanet: 254902; OMIM: 124000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000400824Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000400824.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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