NM_000920.3(PC):c.1892G>A (p.Arg631Gln) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000484861.1

Allele description

NM_000920.3(PC):c.1892G>A (p.Arg631Gln)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_000920.3(PC):c.1892G>A (p.Arg631Gln)
HGVS:
  • NC_000011.10:g.66851880C>T
  • NG_008319.1:g.111497G>A
  • NM_000920.3:c.1892G>A
  • NM_001040716.1:c.1892G>A
  • NP_000911.2:p.Arg631Gln
  • NP_001035806.1:p.Arg631Gln
  • NC_000011.9:g.66619351C>T
  • P11498:p.Arg631Gln
Protein change:
R631Q
Links:
UniProtKB: P11498#VAR_058961; dbSNP: rs113994145
NCBI 1000 Genomes Browser:
rs113994145
Molecular consequence:
  • NM_001040716.1:c.1892G>A - 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
SCV000566499GeneDxcriteria provided, single submitter
Pathogenic
(Sep 28, 2016)
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, SCV000566499.3

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

Description

The R631Q variant in the PC gene has previously been reported in two unrelated patients with pyruvate carboxylase deficiency who were also compound heterozygous for a second variant in the PC gene (Wang et al., 2008; Monnot et al., 2009). The R631Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R631Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret R631Q to be a pathogenic variant.

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

Last Updated: Jun 12, 2018