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NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Nov 28, 2017)
Last evaluated:
Jul 14, 2017
Accession:
VCV000012669.2
Variation ID:
12669
Description:
single nucleotide variant
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NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val)

Allele ID
27708
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.2
Genomic location
17: 68515400 (GRCh38) GRCh38 UCSC
17: 66511541 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66511541A>G
NC_000017.11:g.68515400A>G
NM_001369389.1:c.1A>G NP_001356318.1:p.Met1Val missense
... more HGVS
Protein change
M1V
Other names
-
Canonical SPDI
NC_000017.11:68515399:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA341227
OMIM: 188830.0008
dbSNP: rs281864779
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 14, 2017 RCV000523178.1
Pathogenic 2 no assertion criteria provided Sep 20, 2012 RCV000013505.26
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRKAR1A - - GRCh38
GRCh37
412 607

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 14, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000616832.1
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The c.1A>G variant in the PRKAR1A gene has previously been reported to segregate with disease in at least two families with features of Carney complex … (more)
pathologic
(Sep 20, 2012)
no assertion criteria provided
Method: curation
Carney Complex
Allele origin: not provided
GeneReviews
Accession: SCV000058231.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Dec 12, 2000)
no assertion criteria provided
Method: literature only
CARNEY COMPLEX, TYPE 1
Allele origin: germline
OMIM
Accession: SCV000033752.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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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

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Title Author Journal Year Link
Carney Complex Stratakis CA - 2018 PMID: 20301463
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Kirschner LS Human molecular genetics 2000 PMID: 11115848

Text-mined citations for rs281864779...

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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 Apr 08, 2021