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_018100.4(EFHC1):c.544C>T (p.Arg182Cys)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 22, 2018
Accession:
VCV000402820.2
Variation ID:
402820
Description:
single nucleotide variant
Help

NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys)

Allele ID
389791
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p12.2
Genomic location
6: 52438562 (GRCh38) GRCh38 UCSC
6: 52303360 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.52303360C>T
NC_000006.12:g.52438562C>T
NM_001172420.2:c.487C>T NP_001165891.1:p.Arg163Cys missense
... more HGVS
Protein change
R163C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00007
Exome Aggregation Consortium (ExAC) 0.00008
Links
ClinGen: CA3855764
dbSNP: rs200191497
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 2, 2016 RCV000454536.1
Uncertain significance 1 criteria provided, single submitter Dec 22, 2018 RCV000793037.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EFHC1 - - GRCh38
GRCh37
226 240

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 02, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000539077.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or ... (more)
Uncertain significance
(Dec 22, 2018)
criteria provided, single submitter
Method: clinical testing
EJM1
Typical absence seizure
Allele origin: germline
Invitae
Accession: SCV000932372.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 182 of the EFHC1 protein (p.Arg182Cys). The arginine residue is highly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 18, 2020