NM_000920.3(PC):c.584C>T (p.Ala195Val) AND Pyruvate carboxylase deficiency

Clinical significance:Uncertain significance (Last evaluated: Aug 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667975.1

Allele description [Variation Report for NM_000920.3(PC):c.584C>T (p.Ala195Val)]

NM_000920.3(PC):c.584C>T (p.Ala195Val)

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.584C>T (p.Ala195Val)
HGVS:
  • NC_000011.10:g.66871101G>A
  • NG_008319.1:g.92276C>T
  • NM_000920.3:c.584C>T
  • NM_001040716.1:c.584C>T
  • NP_000911.2:p.Ala195Val
  • NP_001035806.1:p.Ala195Val
  • NC_000011.9:g.66638572G>A
Protein change:
A195V
Links:
dbSNP: rs1436643226
NCBI 1000 Genomes Browser:
rs1436643226
Molecular consequence:
  • NM_001040716.1:c.584C>T - 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
SCV000792508Counsylcriteria provided, single submitter
Uncertain significance
(Aug 7, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R.

J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9.

PubMed [citation]
PMID:
27290639
PMCID:
PMC4903158

Details of each submission

From Counsyl, SCV000792508.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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