NM_003849.3(SUCLG1):c.110G>C (p.Gly37Ala) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000186193.3

Allele description [Variation Report for NM_003849.3(SUCLG1):c.110G>C (p.Gly37Ala)]

NM_003849.3(SUCLG1):c.110G>C (p.Gly37Ala)

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.110G>C (p.Gly37Ala)
Other names:
p.G37A:GGA>GCA
HGVS:
  • NC_000002.12:g.84449740C>G
  • NG_016755.1:g.14723G>C
  • NM_003849.3:c.110G>C
  • NP_003840.2:p.Gly37Ala
  • NC_000002.11:g.84676864C>G
  • P53597:p.Gly37Ala
Protein change:
G37A
Links:
UniProtKB: P53597#VAR_076432; dbSNP: rs369610897
NCBI 1000 Genomes Browser:
rs369610897
Molecular consequence:
  • NM_003849.3:c.110G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000239219GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 2, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000239219.11

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

Description

The G37A variant in the SUCLG1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G37A variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G37A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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

Last Updated: Apr 17, 2019

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