Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001040716.2(PC):c.616G>T (p.Val206Leu)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 29, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000203920.9
Variation ID:
203920
Description:
single nucleotide variant
Help

NM_001040716.2(PC):c.616G>T (p.Val206Leu)

Allele ID
200210
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 66871069 (GRCh38) GRCh38 UCSC
11: 66638540 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.66871069C>A
NC_000011.9:g.66638540C>A
NG_008319.1:g.92308G>T
... more HGVS
Protein change
V206L
Other names
p.V206L:GTG>TTG
Canonical SPDI
NC_000011.10:66871068:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00399 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00337
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00146
Trans-Omics for Precision Medicine (TOPMed) 0.00151
The Genome Aggregation Database (gnomAD), exomes 0.00317
The Genome Aggregation Database (gnomAD) 0.00121
The Genome Aggregation Database (gnomAD) 0.00126
Trans-Omics for Precision Medicine (TOPMed) 0.00144
1000 Genomes Project 0.00399
Links
ClinGen: CA312918
dbSNP: rs147945506
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Sep 14, 2018 RCV000676961.7
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 5, 2020 RCV001083901.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PC - - GRCh38
GRCh37
560 573

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000239151.7
Submitted: (Sep 29, 2021)
Evidence details
Comment:
Observed in apparent homozygous state in a patient with pyruvate carboxylase deficiency who was also homozygous for another PC variant that the authors concluded was … (more)
Likely benign
(Jun 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000884286.1
Submitted: (Oct 10, 2018)
Evidence details
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Pyruvate carboxylase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001260891.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate carboxylase deficiency
Allele origin: germline
Invitae
Accession: SCV001107529.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 12, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV000802787.1
Submitted: (May 23, 2018)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency. Ortez C Gene 2013 PMID: 23973720

Text-mined citations for rs147945506...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021