NM_000920.3(PC):c.1181T>C (p.Ile394Thr) AND Pyruvate carboxylase deficiency

Clinical significance:Uncertain significance (Last evaluated: Sep 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000675086.1

Allele description [Variation Report for NM_000920.3(PC):c.1181T>C (p.Ile394Thr)]

NM_000920.3(PC):c.1181T>C (p.Ile394Thr)

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.1181T>C (p.Ile394Thr)
HGVS:
  • NC_000011.10:g.66866191A>G
  • NG_008319.1:g.97186T>C
  • NM_000920.3:c.1181T>C
  • NM_001040716.1:c.1181T>C
  • NP_000911.2:p.Ile394Thr
  • NP_001035806.1:p.Ile394Thr
  • NC_000011.9:g.66633662A>G
Protein change:
I394T
Links:
dbSNP: rs1057520687
NCBI 1000 Genomes Browser:
rs1057520687
Molecular consequence:
  • NM_001040716.1:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyruvate carboxylase deficiency
Synonyms:
ATAXIA WITH LACTIC ACIDOSIS II; Pyruvate Carboxylase Deficiency Disease
Identifiers:
MedGen: C0034341; Orphanet: 3008; OMIM: 266150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800598Counsylcriteria provided, single submitter
Uncertain significance
(Sep 20, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000800598.1

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

Last Updated: Apr 17, 2019

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