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NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: May 8, 2019)
Last evaluated:
Oct 16, 2018
Accession:
VCV000189338.4
Variation ID:
189338
Description:
single nucleotide variant
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NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)

Allele ID
187227
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.2
Genomic location
2: 162272377 (GRCh38) GRCh38 UCSC
2: 163128887 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.163128887C>T
NC_000002.12:g.162272377C>T
NM_022168.4:c.2465G>A NP_071451.2:p.Arg822Gln missense
... more HGVS
Protein change
R822Q
Other names
IFIH1, ARG822GLN (rs376048533)
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA199234
UniProtKB: Q9BYX4#VAR_073666
OMIM: 606951.0009
dbSNP: rs376048533
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 20, 2017 RCV000436896.2
Pathogenic 1 criteria provided, single submitter Oct 2, 2018 RCV000789041.1
Pathogenic 1 criteria provided, single submitter Oct 16, 2018 RCV000822311.1
Pathogenic 1 no assertion criteria provided Feb 5, 2015 RCV000169754.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IFIH1 - - GRCh38
GRCh37
189 208

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000517315.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R822Q variant in the IFIH1 gene has been reported previously in multiple unrelated individuals with Singleton-Merten syndrome (Rutsch et al., 2015; Pettersson et al., ... (more)
Pathogenic
(Sep 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV000927411.1
Submitted: (May 08, 2019)
Comment:
Patient analyzed with Primary Immunodeficiency Panel
Evidence details
Pathogenic
(Oct 02, 2018)
criteria provided, single submitter
Method: clinical testing
Aicardi-Goutieres syndrome 7
Allele origin: germline
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV000928386.1
Submitted: (Mar 06, 2019)
Evidence details
Comment:
PS1, PS3, PP1, PP3, PP5
Pathogenic
(Oct 16, 2018)
criteria provided, single submitter
Method: clinical testing
Aicardi-Goutieres syndrome 7
Singleton-Merten syndrome 1
Allele origin: germline
Invitae
Accession: SCV000963109.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with glutamine at codon 822 of the IFIH1 protein (p.Arg822Gln). The arginine residue is highly conserved and there is a ... (more)
Pathogenic
(Feb 05, 2015)
no assertion criteria provided
Method: literature only
SINGLETON-MERTEN SYNDROME 1
Allele origin: germline
OMIM
Accession: SCV000221304.1
Submitted: (Apr 07, 2015)
Evidence details
Publications
PubMed (2)
Feigenbaum, A., Kumar, A.,  (more...)
Rutsch, F., Kehl, H. G., Ruf, N.,  (more...)

Citations for this variant

Title Author Journal Year Link
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity. Pettersson M American journal of medical genetics. Part A 2017 PMID: 28319323
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Rutsch F American journal of human genetics 2015 PMID: 25620204
Singleton-merten syndrome and impaired cardiac function. Valverde I Journal of the American College of Cardiology 2010 PMID: 21070929
Feigenbaum, A., Kumar, A., Weksberg, R. Singleton-Merten (S-M) syndrome: autosomal dominant transmission with variable expression. (Abstract) Am. J. Hum. Genet. 43: A48-only, 1988. - - - -
Rutsch, F., Kehl, H. G., Ruf, N., Vogt, J., Kleinheinz, J., Rauch, F., Hofbauer, L. C., Rehder, H., Arslan-Kirchner, M., Nurnberg, P. Singleton-Merten syndrome: evidence of autosomal dominant inheritance in the first European family. Europ. J. Hum. Genet. 13: 112(P0154), 2005. - - - -

Record last updated Oct 27, 2019