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NM_001184880.1(PCDH19):c.559T>G (p.Phe187Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Feb 10, 2018
Accession:
VCV000193197.1
Variation ID:
193197
Description:
single nucleotide variant
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NM_001184880.1(PCDH19):c.559T>G (p.Phe187Val)

Allele ID
190362
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq22.1
Genomic location
X: 100408039 (GRCh38) GRCh38 UCSC
X: 99663037 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.99663037A>C
NC_000023.11:g.100408039A>C
NM_001184880.1:c.559T>G NP_001171809.1:p.Phe187Val missense
NG_021319.1:g.7235T>G
Protein change
F187V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
dbSNP: rs764980282
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 5, 2014 RCV000173244.1
Uncertain significance 1 criteria provided, single submitter Feb 10, 2018 RCV000536591.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCDH19 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
354 501

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 10, 2018)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy 9
Allele origin: germline
Invitae
Accession: SCV000640273.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces phenylalanine with valine at codon 187 of the PCDH19 protein (p.Phe187Val). The phenylalanine residue is highly conserved and there is a ... (more)
Uncertain significance
(Sep 05, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000224340.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PCDH19 - - - -

Record last updated Mar 29, 2019