NM_003849.3(SUCLG1):c.635A>G (p.Gln212Arg) AND Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000680113.1

Allele description [Variation Report for NM_003849.3(SUCLG1):c.635A>G (p.Gln212Arg)]

NM_003849.3(SUCLG1):c.635A>G (p.Gln212Arg)

Gene:
SUCLG1:succinate-CoA ligase alpha subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_003849.3(SUCLG1):c.635A>G (p.Gln212Arg)
HGVS:
  • NC_000002.12:g.84433390T>C
  • NG_016755.1:g.31073A>G
  • NM_003849.3:c.635A>G
  • NP_003840.2:p.Gln212Arg
  • NC_000002.11:g.84660514T>C
Protein change:
Q212R
Molecular consequence:
  • NM_003849.3:c.635A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) (MTDPS9)
Identifiers:
MedGen: C3151476; Orphanet: 17; OMIM: 245400

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000807554Baylor Miraca Genetics Laboratories,criteria provided, single submitter
Uncertain significance
(Sep 1, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

PubMed [citation]
PMID:
25326635
PMCID:
PMC4326249

Details of each submission

From Baylor Miraca Genetics Laboratories,, SCV000807554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000508680.4)
PubMed (2)

Description

This variant has been previously reported as disease-causing and was found once in our laboratory with a missense variant [M14L - phase not determined, but mother carried M14L and not Q212R] in a 7-year-old female with bilateral hearing loss and congenital chorea.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided
(GTR000508680.4)
not providednot providednot providednot provided

Last Updated: Mar 30, 2019

Support Center